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References

(last modified August 3, 1999)


Abbs, S. and Bobrow, M. (1992). Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J. Med. Genet. 29:191-196.

Abbs, S., Roberts, R.G., Mathew, C.G., Bentley, D.R., and Bobrow, M. (1990). Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics 7:602-606.

Abbs, S., Yau, S.C., Mathew, C.G., and Bobrow, M. (1991). A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. J. Med. Genet. 28:304-311.

Ad Hoc Committee on Mutation Nomenclature (1996). Update on nomenclature for human gene mutations. Hum. Mutat. 8:197-202.

Adams, M.E., Butler, M.H., Dwyer, T.M., Peters, M.F., Murnane, A.A., and Froehner, S.C. (1993). Two forms of mouse syntrophin, a 5 kd dystrophin-associated protein, differ in primary structure and tissue distribution. Neuron 11:531-540.

Ahn, A.H. and Kunkel, L.M. (1993). The structural and functional diversity of dystrophin. Nat. Genet. 3:283-291.

Ahn, A.H. and Kunkel, L.M. (1995). Syntrophin binds to an alternatively spliced exon of dystrophin. J. Cell Biol. 128:363-371.

Akalin, N., Zietkiewicz, E., Makalowski, W., and Labuda, D. (1994). Are CpG sites mutation hot spots in the dystrophin gene ? Hum. Mol. Genet. 3:1425-1426.

Ambrose, H.J., Blake, D.J., Nawrotzki, R.A., and Davies, K.E. (1996). Genomic organization of the mouse dystrobrevin gene: alternative splicing generates multiple dystrobrevin isoforms from a single gene on chromosome 18. Am. J. Hum. Genet. 59, A145(Abstract)">

Anand, R., Honeycombe, J., Whittaker, P.A., Elder, J.K., and Southern, E.M. (1988). Clones from an 840-kb fragment containing the 5' region of the DMD locus enriched by Pulsed Field Gel Electrophoresis. Genomics 3:177-186.

Anderson, M.S. and Kunkel, L.M. (1992). Dystrophin mRNA in lyophilized tissue. Nature 335:778

Arahata, K., Hoffman, E.P., Kunkel, L.M., Ishiura, S., Tsukahara, T., Ishihara, T., Sunohara, T., Nonaka, I., Ozawa, E., and Sugita, H. (1989). Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescent and immunoblot analyses. Proc. natl. Acad. Sci. USA 86:7154-7158.

Arahata, K., Ishiura, S., Ishiguro, T., Tsukahara, T., Suhara, Y., Eguchi, C., Ishihara, T., Nonaka, I., Ozawa, E., and Sugita, H. (1988). Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 333:861-866.

Ascadi, G., Dickson, G., Love, D.R., Jani, A., Walsh, F.S., Gurusinghe, A., Wolff, J.A., and Davies, K.E. (1991). Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. Nature 352:815-818.

Austin, R.C., Howard, P.L., D'Souza, V.N., Klamut, H.J., and Ray, P.N. (1995). Cloning and characterization of alternatively spliced isoforms of Dp71. Hum. Mol. Genet. 4:1475-1483.

Bakker, E., Bonten, E.J., de Lange, L.F., Veenema, H., Majoor-Krakauer, D., Hofker, M.H., Van Ommen, G.J.B., and Pearson, P.L. (1986). DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: A standard diagnostic procedure. J. Med. Genet. 23:573-580.

Bakker, E., Bonten, E.J., Veenema, H., Den Dunnen, J.T., Grootscholten, P.M., Van Ommen, G.J.B., and Pearson, P.L. (1989). Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field. J. Inherited Metab. Dis. 12:174-190.

Bakker, E., Hofker, M.H., Goor, N., Mandel, J.L., Wrogemann, K., Davies, K.E., Kunkel, L., Willard, H.F., Fenton, W.A., Sandkuyl, L., Majoor-Krakauer, D., Van Essen, A.J., Jahoda, M.G.J., Sachs, E., Van Ommen, G.J.B., and Pearson, P.L. (1985). Prenatal diagnosis and carrier detection of Duchenne Muscular Dystrophy with closely linked RFLPs. Lancet i:655-658.

Bakker, E., Kneppers, A.L.J., Voorhoeve, E., Deutz-Terlouw, P., Brocker-Vriends, A.H.J.T., and Van Ommen, G.J.B. (1991). Advances and pitfalls in prenatal diagnosis: five years DNA-analysis for Duchenne and Becker muscular dystrophy and hemophilia. In: Muscular dystrophy research. (C. Angelini, G.A. Danieli, and D. Fontanari, Eds). Amsterdam: Elsevier Science Publishers B.V. pp. 67-76.

Bakker, E. and Pearson, P.L. (1986). Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination. Clin. Genet. 30:347-349.

Bakker, E., Van Broeckhoven, C., Bonten, E.J., Van De Vooren, M.J., Veenema, H., Van Hul, W., Van Ommen, G.J.B., Vandenberghe, A., and Pearson, P.L. (1987). Germline Mosaicism and Duchenne Muscular Dystrophy mutations. Nature 329:554-556.

Bakker, E., Veenema, H., Den Dunnen, J.T., Van Broeckhoven, C., Grootscholten, P.M., Bonten, E.J., Van Ommen, G.J.B., and Pearson, P.L. (1989). Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations. J. Med. Genet. 26:553-559.

Bar, S., Barnea, E., Levy, Z., Neuman, S., Yaffe, D., and Nudel, U. (1990). A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in structure and tissue distribution. Biochem. J. 272:557-560.

Barbieri, A.M., Soriani, N., Ferlini, A., Michelato, A., Ferrari, M., and Carrera, P. (1996). Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts. Eur. J. Hum. Genet. 4:183-187.

Barbieri, A.M., Soriani, N., Tubiello, G.M., Ferrari, M., and Carrera, P. (1995). A nonsense mutation (Gln-637-Term) in exon 17 of the dystrophin gene detected by heteroduplex analysis. Hum. Genet. 96:343-344.

Barnea, E., Zuk, D., Simantov, R., Nudel, U., and Yaffe, D. (1990). Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells. Neuron 5:881-888.

Bartlett, R.J., Pericak-vance, M.A., Koh, J., Yamaoka, L.H., Chen, J.C., Hung, W.-Y., Speer, M.C., Wapenaar, M.C., Van Ommen, G.J.B., Bakker, E., Pearson, P.L., Kandt, R.S., Siddique, T., Gilbert, J.R., Lee, J.E., Sirotkin-Roses, M.J., and Roses, A.D. (1988). Duchenne muscular dystrophy: high frequency of deletions. Neurol. 38:1-4.

Bartley, J.A., Patil, S., Davenport, S., Goldstein, D., and Pickens, J. (1986). Duchenne muscular dystrophy, glycerol kinase deficiency and adrenal insufficiency associated with Xp21 interstitial deletion. J. Pediatr. 108:189-192.

Bartolo, C., Papp, A.C., Snyder, P.J., Sedra, M.S., Burghes, A.H.M., Hall, C.D., Mendell, J.R., and Prior, T.W. (1996). A novel splice site mutation in a becker muscular dystrophy patient. J Med Genet 33:324-327.

Bashir, R., Keers, S., Strachan, T., Passos Bueno, R., Zatz, M., Weissenbach, J., Le Paslier, D., Meisler, M., and Bushby, K. (1996). Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 33:46-52.

Bashir, R., Strachan, T., Keers, S., Stephenson, A., Mahjneh, I., Marconi, G., Nashef, L., and Bushby, K.M. (1994). A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum. Mol. Genet. 3:455-457.

Baumbach, L.A., Chamberlain, J.S., Ward, P.A., Farwell, N.J., and Caskey, C.T. (1989). Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurol. 465-474.

Baumbach, L.L., Chamberlain, J.S., Ward, P.A., Farwell, N.J., and Caskey, C.T. (1989). Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurol. 39:465-474.

Bebchuk, K.G., Bulman, D.E., D'Souza, V.N., Worton, R.G., and Ray, P.N. (1993). Genomic organization of exons 22 to 25 of the dystrophin gene. Hum. Mol. Genet. 2:593-594.

Beggs, A.H. (1994). Multiplex PCR for identifying dystrophin gene deletions. In: Current protocols in Human Genetics. Anonymouspp. 9.3.1-9.3.17.

Beggs, A.H., Hoffman, E.P., Snyder, J.R., Arahata, K., Specht, L., Shapiro, F., Angelini, C., Sugita, H., and Kunkel, L.M. (1991). Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am. J. Hum. Genet. 49:54-67.

Beggs, A.H., Koenig, M., Boyce, F.M., and Kunkel, L.M. (1990). Detection of 98-percent DMD/BMD gene deletions by polymerase chain reaction. Hum. Genet. 86:45-48.

Beggs, A.H. and Kunkel, L.M. (1990). A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucl. Acids Res. 18:1931

Beggs, A.H., Neumann, P.E., Arahata, K., Arikawa, I., Nonaka, I., Anderson, M.S., and Kunkel, L.M. (1992). Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc. natl. Acad. Sci. USA 89:6230-627.

Bentley-Lawrence, J., Singer, R.H., and McNeil, J.A. (1991). Interphase and metaphase resolution of different distances within the human dystrophin gene. Science 249:928-932.

Bertelson, C.J., Bartley, J.A., Monaco, A.P., Colletti-Feener, C., Fischbeck, K.H., and Kunkel, L.M. (1986). Localisation of Xp21 meiotic exchange points in Duchenne Muscular Dystrophy families. J. Med. Genet. 23:531-537.

Bettecken, T., Aissani, B., Muller, C.R., and Bernardi, G. (1992). Compositional mapping of the human dystrophin-encoding gene. Gene 122:329-335.

Bettecken, T. and Muller, C.R. (1989). Identification of a 220-kb insertion into the Duchenne gene in a family with an atypical course of muscular dystrophy. Genomics 4:592-596.

Beutler, E., McKusick, V.A., Motulsky, A.G., Scriver, C.R., and Hutchinson, F. (1996). Mutation nomenclature: nicknames, systematic names and, unique identifiers. Hum. Mutat. 8:203-206.

Bieber, F.R., Hoffman, E.P., and Amos, J.A. (1989). Dystrophin analysis in Duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling. Am. J. Hum. Genet. 45:362-367.

Bies, R.D., Phelps, S.F., Cortez, M.D., Roberts, R., Caskey, C.T., and Chamberlain, J.S. (1992). Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucl. Acids Res. 20:1725-1731.

Blake, D.R., Love, D.R., Tinsley, J., Morris, G.E., Turley, H., Gatter, K., Dickson, G., Edwards, Y.H., and Davies, K.E. (1992). Characterization of a 4.8 kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells. Hum. Mol. Genet. 1:103-109.

Blonden, L.A.J., Den Dunnen, J.T., Van Paassen, H.M.B., Wapenaar, M.C., Grootscholten, P.M., Ginjaar, H.B., Bakker, E., Pearson, P.L., and Van Ommen, G.J.B. (1989). High resolution deletion breakpoint mapping in the DMD-gene by whole cosmid hybridization. Nucl. Acids Res. 17:5611-5621.

Blonden, L.A.J., Grootscholten, P.M., Den Dunnen, J.T., Bakker, E., Abbs, S., Bobrow, M., Boehm, C., Van Broeckhoven, C., Baumbach, L., Chamberlain, J., Caskey, C.T., Denton, M., Felicetti, L., Galluzzi, G., Fischbeck, K.H., Francke, U., Darras, B., Gilgenkrantz, H., Kaplan, J.-C., Herrmann, F.H., Junien, C., Boileau, C., Liechti-Gallati, S., Lindlof, M., Matsumoto, T., Niikawa, N., Muller, C., Poncin, J.E., Malcolm, S., Robertson, E., Romeo, G., Covone, A.E., Scheffer, H., Schroder, E., Schwartz, M., Verellen, C., Walker, A., Worton, R., Gillard, E., and Van Ommen, G.J.B. (1991). 242 breakpoints in the 200-kb deletion-prone P20 region of the DMD-gene are widely spread. Genomics 10:631-639.

Blonden, L.A.J., Terwindt, G.M., Den Dunnen, J.T., and Van Ommen, G.J.B. (1994). A polymorphic STS in intron 44 of the dystrophin gene. Hum. Genet. 93:479-480.

Bodrug, S.E., Burghes, A.H.M., Ray, P.M., and Worton, R.G. (1989). Mapping four translocation breakpoints within the Duchenne muscular dystrophy gene. Genomics 4:101-104.

Bodrug, S.E., Holden, J.J.A., Ray, P.N., and Worton, R.G. (1991). Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy. EMBO J. 10:3931-3939.

Bonilla, E., Samitt, C.E., Miranda, A.F., Hays, A.P., Salviati, G., Dimauro, S., Kunkel, L.M., Hoffman, E.P., and Rowland, L.P. (1988). Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface. Cell 54:447-452.

Bonilla, E., Schmidt, B., Samitt, C.E., Miranda, A.F., Hays, A.P., de Oliveira, A.B.S., Chang, H.W., Servidei, S., Ricci, E., Younger, D.S., and Dimauro, S. (1988). Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy. Am. J. Pathol 133:440-445.

Bonnemann, C.G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E.M., Duggan, D.J., Angelini, C., Hoffman, E.P., Ozawa, E., and Kunkel, L.M. (1995). beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat. Genet. 11:266-273.

Bonnemann, C.G., Passos-Bueno, M.R., McNally, E.M., Vainzof, M., Moreira, E.S., Noguchi, S., Ozawa, E., Zatz, M., and Kunkel, L.M. (1996). Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cuase severe lin\mg-girdle muscular dystrophy tyep 2E (LGMD 2E). Hum. Mol. Genet. 5:1953-1961.

Boyce, F.M., Beggs, A.H., Feener, C.A., and Kunkel, L.M. (1991). Dystrophin is transcribed in brain from a distant upstream promoter. Proc. natl. Acad. Sci. USA 88:1276-1280.

Boyd, Y. and Buckle, V.J. (1986). Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin. Genet. 29:108-115.

Brockdorff, N., Cross, G.S., Cavanna, J.S., Fisher, E.M., Lyon, M.F., Davies, K.E., and Brown, S.D. (1987). The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome. Nature 328:166-168.

Brooke, M.H., Fenichel, G.M., Griggs, R.C., Mendell, J.R., Moxley, R., Florence, J., King, W.M., Pandya, S., Robison, J., Schierbecker, J., Signore, L., Miller, J.P., Gilder, B.F., Kaiser, K.K., Mandel, S., and Arfken, C. (1989). Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurol. 39:475-481.

Buckle, V.J., Guenet, J.L., Simon-Chazottes, D., Love, D.R., and Davies, K.E. (1990). Localisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus. Hum. Genet. 85:324-326.

Bullock, D.G., McSweeny, F.M., Whitehead, T.P., and Edwards, J.H. (1979). Serum creatine kinase activity and carrier status for Duchenne muscular dystrophy. Lancet 2:1151-1152.

Bulman, D.E., Gangopadhyay, S.B., Bebchuck, K.G., Worton, R.G., and Ray, P.N. (1991). Point mutation in the human dystrophin gene: identification through western blot analysis. Genomics 10:457-460.

Bulman, D.E., Gordon Murphy, E., Zubrzycka-Gaarn, E.E., Worton, R.G., and Ray, P.N. (1991). Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin. Am. J. Hum. Genet. 48:295-304.

Bunyan, D.J., Crolla, J.A., Collins, A.L., and Robinson, D.O. (1995). Fluoresence in situ hybridisation studies provide evidence for somatic mocaism in de novo dystrophin gene deletions. Hum. Genet. 95:43-45.

Burghes, A.H.M., Logan, C., Hu, X., Belfall, B., Worton, R.G., and Ray, P.N. (1987). A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature 328:434-437.

Burmeister, M. and Lehrach, H. (1986). Long-range restriction map around the Duchenne muscular dystrophy gene. Nature 324:482-485.

Burmeister, M., Monaco, A.P., Gillard, E.F., Van Ommen, G.J.B., Affara, N.A., Ferguson-Smith, M.A., Kunkel, L.M., and Lehrach, H. (1988). A 10-Megabase map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics 2:189-202.

Bushby, K.M.D., Cleghorn, N.J., Curtis, A., Haggerty, I.D., Nicholson, L.V.B., Johnson, M.A., Harris, J.B., and Bhattacharya, S.S. (1991). Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy. Hum. Genet. 88:195-199.

Byers, T.J., Lidov, H.G.W., and Kunkel, L.M. (1993). An alternative dystrophin transcript specific to peripheral nerve. Nat. Genet. 4:77-81.

Canki, N., Dutrillaux, B., and Tivadar, I. (1979). Dystrophie musculaire de Duchenne chez une fille porteuse d'une translocation t(X;3)(p21;q13). Ann. Genet. 22:35-39.

Carrie, A., Piccolo, F., Leturcq, F., de Toma, C., Azibi, K., Beldjord, C., Vallat, J.M., Merlini, L., Voit, T., Sewry, C., Urtizberea, J.A., Romero, N., Tome, F.M., Fardeau, M., Sunada, Y., Campbell, K.P., Kaplan, J.C., and Jeanpierre, M. (1997). Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J. Med. Genet. 34:470-475.

Chakraborty, R., Zhong, Y., De Andrade, M., Clemens, P.R., Fenwick, R.G., and Caskey, C.T. (1994). Linkage disequilibria among (CA)n polymorphisms in the human dystrophin gene and their implications in carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophies. Genomics 21:567-570.

Chamberlain, J.S., Chamberlain, J.R., Fenwick, R.G., Ward, P.A., Caskey, C.T., Dimnik, L.S., Bech-Hansen, N.T., Tantravahi, U., Richards, S., Covone, A.E., Romeo, G., Abbs, S., Bentley, D.R., Bobrow, M., Rysiecki, G., Ray, P., Boileau, C., Junien, C., Boehm, C., Venne, V.L., Fujimura, F.K., Spiga, I., Ferrari, M., Tedeschi, S., Bakker, E., Kneppers, A.L.J., Van Ommen, G.J.B., Jain, K., Spector, E., Crandall, B., Kiuru, A., and Savontaus, M.L. (1992). Diagnosis of Duchenne's and Becker's muscular dystro phies by polymerase chain reaction: a multicenter study. J. Am. Med. Assoc. 267:2609-2615.

Chamberlain, J.S., Gibbs, R.A., Ranier, J.E., and Caskey, C.T. (1990). Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In: PCR protocols: a guide to methods and applications. (M.A. Innis, D.H. Gelfand, J.J. Sninsky, and T.J. White, Eds). San Diego: Academic Press, pp. 272-281.

Chamberlain, J.S., Gibbs, R.A., Ranier, J.E., Nga Nguyen, P.N., and Caskey, C.T. (1988). Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucl. Acids Res. 23:11141-11156.

Chamberlain, J.S., Pearlman, J.A., Muzny, D.M., Gibbs, R.A., Ranier, J.E., Reeves, A.A., and Caskey, C.T. (1988). Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science 239:1416-1418.

Chang, H.W., Bonilla, E., and Bock, E. (1989). Dystrophin in electric organ of Torpedo californica homologous to that in muscle. J. Biol. Chem. 264:20831-20834.

Chelly, J., Gilgenkrantz, H., Hugnot, J.P., Hamard, G., Lambert, M., Recan, D., Akli, S., Cometto, M., Kahn, A., and Kaplan, J.C. (1991). Illegitimate transcription: application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients. J. Clin. Invest. 88:1161-1166.

Chelly, J., Gilgenkrantz, H., Lambert, M., Hamard, G., Chafey, P., Recan, D., Ginjaar, H.B., Fardeau, M., Tome, F., Kahn, A., and Kaplan, J.-C. (1991). The dystrophin transcripts in DMD and BMD patients with gene deletions. In: Muscular dystrophy research: from molecular diagnosis toward therapy. (C. Angelini, G.A. Danieli, and D. Fontanari, Eds). Amsterdam: Elsevier Science Publishers B.V. pp. 147-156.

Chelly, J., Gilgenkrantz, H., Lambert, M., Hamard, G., Chafey, P., Recan, D., Katz, P., De la Chapelle, A., Koenig, M., Ginjaar, H.B., Fardeau, M., Tome, F., Kahn, A., and Kaplan, J.-C. (1990). Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell 63:1239-1248.

Chelly, J., Hamard, G., Koulakoff, A., Kaplan, J.-C., Kahn, A., and Berwald-Netter, Y. (1990). Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature 344:64-65.

Chelly, J., Kaplan, J.-C., Maire, P., Gautron, S., and Kahn, A. (1988). Transcription of the dystrophin gene in human muscle and non-muscle tissue. Nature 333:858-861.

Chelly, J., Marlhens, F., Dutrillaux, B., Van Ommen, G.J.B., Lambert, M., Haioun, B., Boissinot, G., Fardeau, M., and Kaplan, J.-C. (1988). Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy,glycerol kinase deficiency, and adrenal hypoplasia. Hum. Genet. 78:222-227.

Chelly, J., Montarras, D., Pinset, C., Berwald-Netter, Y., Kaplan, J.-C., and Kahn, A. (1990). Quantitative estimation of minor mRNAs by cDNA-polymerase chain reaction; application to dystrophin mRNA in cultured myogenic and brain cells. Eur. J. Biochem. 187:691-698.

Chen, J., Denton, M.J., Morgan, G., Pearn, J.H., and MacKinlay, A.G. (1988). The use of Field-Inversion Gel Electrophoresis for deletion detection in Duchenne Muscular Dystrophy. Am. J. Hum. Genet. 42:777-780.

Chen, J.D., Hejtmancik, J.F., Romeo, G., Lindlof, M., Boehm, C.D., Caskey, C.T., Kress, W., Fischbeck, K.H., Dreier, M., Serraville, S., Grimm, T., Kaariainen, H., Ferrari, M., Pfender, E., Meng, G., De la Chapelle, A., Melis, M.A., Muller, B., MacKinlay, A.G., Muller, C.R., and Denton, M.J. (1989). A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus. Genomics 4:105-109.

Chevron, M.P., Tuffery, S., Echenne, B., Demaille, J., and Claustres, M. (1992). Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining. Neuromusc. Disord. 2:47-50.

Clemens, P.R., Fenwick, R.G., Chamberlain, J.S., Gibbs, R.A., De Andrade, M., Chakraborty, R., and Caskey, C.T. (1991). Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am. J. Hum. Genet. 49:951-960.

Clemens, P.R., Ward, P.A., Caskey, C.T., Bulman, D.E., and Fenwick, R.G. (1992). Premature chain termination mutation causing Duchenne muscular dystrophy. Neurol. 42:1775-1782.

Coffey, A.J., Roberts, R.G., Green, E.D., Cole, C.G., Butler, R., Anand, R., Gianelli, F., and Bentley, D.R. (1992). Construction of a 2.6 Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach. Genomics 12:474-484.

Comi, G.P., Ciafaloni, E., De Silva, H.A.R., Prelle, A., Bardoni, A., Rigoletto, C., Robotti, M., Bresolin, N., Moggio, M., Fortunato, F., Ciscato, P., Turconi, A., Rose, A.D., and Scarlato, G. (1995). A G+1->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient. Hum. Mol. Genet. 4:2171-2174.

Cooper, B.J., Winand, N.J., Stedman, H., Valentine, B.A., Hoffman, E.P., Kunkel, L.M., Scott, M.-O., Fischbeck, K.H., Kornegay, J.N., Avery, R.J., Williams, J.R., Schmickel, R.D., and Sylvester, J.E. (1988). The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature 334:154-156.

Covone, A.E., Caroli, F., and Romeo, G. (1992). Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR. Am. J. Hum. Genet. 51:675-677.

Cox, G.A., Cole, N.M., Matsumura, K., Phelps, S.F., Hauschka, S.D., Campbell, K.P., Faulkner, J.A., and Chamberlain, J.S. (1993). Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature 364:725

Cox, G.A., Phelps, S.F., Chapman, V.M., and Chamberlain, J.S. (1993). New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin. Nat. Genet. 4:87-94.

Cox, G.A., Sunada, Y., Campbell, K.P., and Chamberlain, J.S. (1994). Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy. Nat. Genet. 8:333-339.

Cross, G.S., Speer, A., Rosenthal, A., Forrest, S.M., Smith, T.J., Edwards, Y.H., Flint, T., Hill, D.F., and Davies, K.E. (1987). Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients. EMBO J. 6:3277-3283.

Cullen, M.J., Walsh, J., and Nicholson, L.V. (1994). Immunogold localization of the 43-kDa dystroglycan at the plasma membrane in control and dystrophic human muscle. Acta. Neuropathol. Berl. 87:349-354.

Cullen, M.J., Walsh, J., Nicholson, L.V.B., Harris, J.B., Zubrzycka-Gaarn, E.E., Ray, P.N., and Worton, R.G. (1991). Immunogold labelling of dystrophin in human muscle, using antibody to the last 17 amino acids of the C-terminus. Neuromusc. Disord. 1:113-119.

D'Souza, V.N., Thi Man, N., Morris, G.E., Karges, W., Pillers, D.A.M., and Ray, P.N. (1995). A novel dystrophin isoform is required for normal retinal electrophysiology. Hum. Mol. Genet. 4:837-842.

Darras, B.T., Blattner, P., Harper, J.F., Spiro, A.J., Alter, S., and Francke, U. (1988). Intragenic deletions in 21 Duchenne muscular dystrophy (DMD) / Becker muscular dystrophy families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am. J. Hum. Genet. 43:620-629.

Darras, B.T. and Francke, U. (1988). Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. Am. J. Hum. Genet. 43:126-130.

Darras, B.T. and Francke, U. (1988). Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. Am. J. Hum. Genet. 43:612-619.

Darras, B.T., Harper, J.F., and Francke, U. (1987). Prenatal diagnosis and carrier detections with DNA probes in Duchenne's Muscular Dystrophy. New Engl. J. Med. 316:985-992.

Darras, B.T., Koenig, M., Kunkel, L.M., and Francke, U. (1988). Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am. J. Hum. Genet. 29:713-726.

Davies, K.E., Pearson, P.L., Harper, P.S., Murray, J.M., O'Brien, T., Sarfarazi, M., and Williamson, R. (1983). Linkage analysis of two cloned DNA sequences flanking the Duchenne Muscular Dystrophy locus on the short arm of the human X chromosome. Nucl. Acids Res. 11:2303-2312.

Davison, M.D. and Critchley, D.R. (1988). alpha-Actinins and the DMD protein contain spectrin-like repeats. Cell 52:159-160.

De Martinville, B., Kunkel, L.M., Bruns, G., Morel, F., Koenig, M., Mandel, J.L., Horwich, A., Latt, S.A., Gusella, J.F., Housman, D., and Francke, U. (1985). Localization of sequences in the region Xp21 of the human X-chromosome: search for markers close to the Duchenne muscular dystrophy locus. Am. J. Hum. Genet. 37:235-249.

De Visser, M., Bakker, E., Defesche, J.C., Bolhuis, P.A., and Van Ommen, G.J.B. (1990). An unusual variant of Becker muscular dystrophy. Ann. Neurol. 27:578-581.

Den Dunnen, J.T., Bakker, E., Klein-Breteler, E.G., Pearson, P.L., and Van Ommen, G.J.B. (1987). Direct detection of more than 50% Duchenne muscular dystrophy mutations by field-inversion gels. Nature 329:640-642.

Den Dunnen, J.T., Bakker, E., Van Ommen, G.J.B., and Pearson, P.L. (1989). The DMD gene analysed by Field Inversion Gel Electrophoresis. Brit. Med. Bull. 45:644-658.

Den Dunnen, J.T., Casula, L., Makover, A., Bakker, E., Yaffe, D., Nudel, U., and Van Ommen, G.J.B. (1991). Mapping of dystrophin brain promoter: a deletion of this region is compatible with normal intellect. Neuromusc. Disord. 1:327-331.

Den Dunnen, J.T., Grootscholten, P.M., Bakker, E., Blonden, L.A.J., Ginjaar, H.B., Wapenaar, M.C., Van Paassen, H.M.B., Van Broeckhoven, C., Pearson, P.L., and Van Ommen, G.J.B. (1989). Topography of the DMD gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet. 45:835-847.

Den Dunnen, J.T., Grootscholten, P.M., Dauwerse, J.D., Monaco, A.P., Walker, A.P., Butler, R., Anand, R., Coffey, A.J., Bentley, D.R., Steensma, H.Y., and Van Ommen, G.J.B. (1992). Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination. Hum. Mol. Genet. 1:19-28.

Den Dunnen, J.T., Roest, P.A.M., Van Der Luijt, R.B., and Hogervorst, F.B.L. (1996). The protein truncation test (PTT) for rapid detection of translation terminating mutations. In: Technologies for detection of DNA damage and mutations. (G.P. Pfeifer, Ed.) New York: Plenum Press, pp. 323-341.

Dhawan, J., Pan, L.C., Pavlath, G.K., Travis, M.A., Lanctot, A.M., and Blau, H.M. (1991). Systemic delivery of human growth hormone by injection of genetically engineered myoblasts. Science 254:1509-1512.

Dickson, G., Love, D.R., Davies, K.E., Wells, K.E., Piper, T.A., and Walsh, F.S. (1991). Human dystrophin gene transfer: production and expression of a functional recombinant-based gene. Hum. Genet. 88:53-58.

Dickson, G., Pizzey, J.A., Elsom, V.E., Love, D., Davies, K.E., and Walsh, F.S. (1988). Distinct dystrophin mRNA species are expressed in embryonic and adult mouse skeletal muscle. FEBS Lett. 242:47-52.

Dominguez-Steglich, M., Meng, G., Bettecken, T., Mller, C.R., and Schmid, M. (1990). The dystrophin gene is autosomally located on a microchromosome in chicken. Genomics 8:536-540.

Duchenne, G.B.A. (1868). Recherches sur la paralysie musculaire pseudohypertrophique ou paralysie myo-scl‚rosique. Arch. G‚n. M‚d. 11:5-25.

Duggan, D.J., Gorospe, J.R., Fanin, M., Hoffman, E.P., and Angelini, C. (1997). Mutations in the sarcoglycan genes in patients with myopathy. N. Engl. J. Med. 336:618-624.

Dunckley, M.G., Wells, D.J., Walsh, F.S., and Dickson, G. (1993). Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo. Hum. Mol. Genet. 2:717-723.

Ehrenpreis, J., Hillers, M., Junkes, B., Pfordt, M., Schwinger, E., and Vosberg, H.-P. (1991). Analysis of dystrophin gene deletion by amplification of mRNA isolated from DMD myotubes cultured in vitro. Genomics 10:551-557.

Ellis, J.M., Thi Man, N., Morris, G.E., Ginjaar, H.B., Moorman, A.F.M., and Van Ommen, G.J.B. (1990). Specificity of dystrophin analysis improved with monoclonal antibodies. Lancet ii:882-883.

Emery, A.E.H. (1993). Oxford monographs on medical genetics Vol.24: Duchenne Muscular Dystrophy, Oxford, Oxford University Press.

England, S.B., Nicholson, L.V.B., Johnson, M.A., Forrest, S.M., Love, D.R., Zubrzycka-Gaarn, E.E., Bulman, D.E., Harris, J.B., and Davies, K.E. (1990). Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 343:180-182.

Ervasti, J.M. and Campbell, K.P. (1991). Membrane organization of the dystrophin-glycoprotein complex. Cell 66:1121-1131.

Ervasti, J.M. and Campbell, K.P. (1993). A role for the dystrophin-glycoprotein complex as transmembrane linker between laminin and sctin. J. Cell Biol. 122:809-823.

Ervasti, J.M., Ohlendieck, K., Kahl, S.D., Gaver, M.G., and Campbell, K.P. (1990). Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345:315-319.

Eymard, B., Romero, N.B., Leturcq, F., Piccolo, F., Carrie, A., Jeanpierre, M., Collin, H., Deburgrave, N., Azibi, K., Chaouch, M., Merlini, L., Themar-Noel, C., Penisson, I., Mayer, M., Tanguy, O., Campbell, K.P., Kaplan, J.C., Tome, F.M., and Fardeau, M. (1997). Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurol. 48:1227-1234.

Fanin, M., Danieli, G.A., Vitiello, L., Senter, L., and Angelini, C. (1992). Prevalence of dystrophin-positive fibers in 85 Duchenne muscular dystrophy patients. Neuromusc. Disord. 2:41-45.

Feener, C.A., Boyce, F.M., and Kunkel, L.M. (1991). Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene. Am. J. Hum. Genet. 48:621-627.

Feener, C.A., Koenig, M., and Kunkel, L.M. (1989). Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature 338:509-511.

Fischbeck, K.H.M. (1989). The difference between Duchenne and Becker dystrophies. Neurol. 39:584-585.

Forrest, S.M., Cross, G.S., Flint, T., Speer, A., Robson, K.J.H., and Davies, K.E. (1988). Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 2:109-114.

Forrest, S.M., Cross, G.S., Speer, A., Gardner-Medwin, D., Burn, J., and Davies, K.E. (1987). Preferential deletion of exons in Duchenne and Becker Muscular Dystrophies. Nature 329:638-640.

Forrest, S.M., Smith, T.J., Cross, G.S., Read, A.P., Thomas, N.S.T., Mountford, R.C., Harper, P.S., Geirsson, R.T., and Davies, K.E. (1987). Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet 2:1294-1297.

Fougerousse, F., Broux, O., Richard, I., Allamand, V., Pereira de Souza, A., Bourge, N., Brenguier, L., Devaud, C., Pasturaud, P., Roudat, C., Chiannilkulchai, N., Hillaire, D., Bui, H., Chumakov, I.M., Weissenbach, J., Cohen, D., and Beckmann, J.S. (1993). Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy. Hum. Mol. Genet. 3:285-293.

Francke, U., Ochs, H.D., De Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R.A., Hofker, M.H., Van Ommen, G.J.B., Pearson, P.L., and Wedgwood, R. (1985). Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy,chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome. Am. J. Hum. Genet. 37:250-267.

Gardner, R.J., Bobrow, M., and Roberts, R.G. (1995). The identification of point mutations in Duchenne muscular dystrophy patients using reverse transcript PCR and the protein truncation test. Am. J. Hum. Genet. 57:311-320.

Gee, S.H., Blacher, R.W., Douville, P.J., Provost, P.R., Yurchenco, P.D., and Carbonetto, S. (1993). Laminin-binding protein 120 from brain is closely related to the dystrophin-associated glycoprotein, dystroglycan, and binds with high affinity to the major heparin binding domain of laminin. J. Biol. Chem. 268:14972-14980.

Gelfi, C., Orsi, A., Leoncini, F., Righetti, P.G., Spiga, I., Carrera, P., and Ferrari, M. (1995). Amplification of 18 dystrophin gene exons in DMD/BMD patients: simultaneous resolution by capillary electrophoresis in sieving liquid polymers. BioTechniques 19:254-8,260-3.

Geng, Y., Sicinski, P., Gorecki, D., and Barnard, P.J. (1991). Developmental and tissue-specific regulation of mouse dystrophin: the embryonic isoform in muscular dystrophy. Neuromusc. Disord. 1:125-133.

Gibson, A.J., Karasinski, J., Relvas, J., Moss, J., Sherratt, T.G., Strong, P.N., and Watt, D.J. (1995). Dermal fibroblasts convert to a myogenic lineage in mdx mouse muscle. J. Cell Sci. 108:207-214.

Gilgenkrantz, H., Chelly, J., Lambert, M., Recan, D., Barbot, J.C., Van Ommen, G.J.B., and Kaplan, J.C. (1989). Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophy. Genomics 5:574-580.

Gilgenkrantz, H., Hugnot, J.P., Lambert, M., Chafey, P., Kaplan, J.C., and Kahn, A. (1992). Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type-specific expression of the human muscle dystrophin gene. J. Biol. Chem. 267:10823-10830.

Gillard, E.F., Chamberlain, J.S., Murphy, E.G., Duff, C., Smith, B., Burghes, A.H.M., Thompson, M.W., Sutherland, J., Oss, I., Bodrug, S.E., Klamut, H.J., Ray, P.N., and Worton, R.G. (1989). Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am. J. Hum. Genet. 45:507-520.

Ginjaar, H.B., Bakker, E., Busch, H.F.M., Moorman, A.F.M., De Visser, M., and Van Ommen, G.J.B. (1993). Toepassing van gecombineerde DNA- en dystrofine-eiwitanalyse in de diagnostiek van Duchenne- en Becker-spierdystrofie bij 102 Nederlandse patienten. Ned. Tijdschr. Geneesk. 137:68-75.

Ginjaar, H.B., Bakker, E., Den Dunnen, J.T., Van Paassen, H.M.B., Kloosterman, M.D., Zubrzycka-Gaarn, E.E., Fischbeck, K.H., Wessels, A., Moorman, A.F.M., and Van Ommen, G.J.B. (1990). Detection of truncated dystrophin in fetal DMD myotubes. Adv. Exp. Med. Biol. 280:17-24.

Ginjaar, H.B., Bakker, E., Den Dunnen, J.T., Van Paassen, H.M.B., Van Ommen, G.J.B., Zubrzycka-Gaarn, E.E., Kloosterman, M.D., Wessels, A., and Moorman, A.F.M. (1989). Immunological study of dystrophin in a DMD fetus. Lancet 2:1212-1213.

Ginjaar, H.B., Bakker, E., Den Dunnen, J.T., Wessels, A., Van Paassen, H.M.B., Kloosterman, M.D., Zubrzycka-Gaarn, E.E., Fischbeck, K.H., Moorman, A.F.M., and Van Ommen, G.J.B. (1990). Detection of truncated dystrophin in fetal DMD myotubes. In: Myoblast transfer therapy. (R. Griggs and G. Karpati, Eds). New York: Plenum Press, pp. 17-23.

Ginjaar, H.B., Bakker, E., Van Paassen, H.M.B., Den Dunnen, J.T., Wessels, A., Zubrzycka-Gaarn, E.E., Moorman, A.F.M., and Van Ommen, G.J.B. (1991). Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for DMD. J. Med. Genet. 28:505-511.

Ginjaar, H.B., Den Dunnen, J.T., Van Paassen, H.M.B., Bakker, E., Bertelson, C., Boyd, Y., Pearson, P.L., and Van Ommen, G.J.B. (1987). Cosmid cloning, FIGE mapping, chromosome walking and RFLP study of a distal, intragenic DMD-deletion endpoint, expanding the DMD gene to 2 million bp. Cytogenet. Cell Genet. 46:620

Ginjaar, H.B., Soffers, S., Moorman, A.F.M., Nicholson, L.V.B., Morris, G.E., Bakker, E., Van Haeringen, A., and Van Ommen, G.J.B. (1991). Fetal dystrophin to diagnose carrier status. Lancet 338:259-260.

Ginjaar, H.B., Van Paassen, H.M.B., Den Dunnen, J.T., Thi Man, N., Morris, G.E., Moorman, A.F.M., and Van Ommen, G.J.B. (1992). Construction of dystrophin fusion proteins to raise targeted antibodies to different epitopes. FEBS Lett. 308:293-297.

Glenn Hammonds, R., Jr. (1987). Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin. Cell 51:1

Goodrich, R.P., Sowemimo-Coker, S.O., Zerez, C.R., and Tanaka, K.R. (1992). Preservation of metabolic activity in lyophilized human erythrocytes. Proc. natl. Acad. Sci. USA 89:967-971.

Gorecki, D.C., Monaco, A.P., Derry, J.M.J., Walker, A.P., Barnard, E.A., and Barnard, P.J. (1992). Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum. Mol. Genet. 1:505-510.

Gospe, S.M., Lazaro, R.P., Lava, N.S., Grootscholten, P.M., Scott, M., and Fischbeck, K.H. (1989). Familial X-linked myalgia and cramps: a non-progressive myopathy associated with a deletion in the dystrophin gene. Neurol. 39:1277-1280.

Gowers, W.R. (1879). Clinical lecture on pseudo-hypertrophic muscular paralysis. Lancet 2:37-39.

Greenberg, C.R., Rohringer, M., Jacobs, H.K., Averill, N., Nylen, E., Van Ommen, G.J.B., and Wrogemann, K. (1988). Gene studies in new born males with Duchenne muscular Dystrophy detected by Neonatal screening. Lancet 2:425-427.

Greenberg, D.S., Schatz, Y., Levy, Z., Pizzo, P., Yaffe, D., and Nudel, U. (1996). Reduced levels of dystrophin associated proteins in the brains of mice deficient for Dp71. Hum. Mol. Genet. 5:1299-1303.

Greenstein, R.M., Reardon, M.P., and Chan, T.S. (1977). An X/autosome translocation in a girl with Duchenne muscular dystrophy, evidence for DMD gene localisation. Pediatr. Res. 11, 475(Abstract)">

Grimm, T., Muller, B., Dreier, M., Kind, E., Bettecken, T., Meng, G., and Muller, C.R. (1989). Hot spot of recombination within DXS164 in the Duchenne muscular dystrophy gene. Am. J. Hum. Genet. 45:368-372.

Grootscholten, P.M., Den Dunnen, J.T., Monaco, A.P., Anand, R., and Van Ommen, G.J.B. (1991). YAC mapping strategies applied to the DMD-gene. Technique 3:41-50.

Gussoni, E., Pavlath, G.K., Lanctot, A.M., Sharma, K.R., Miller, R.G., Steinman, L., and Blau, H.M. (1992). Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation. Nature 356:435-438.

Hagiwara, Y., Nishio, H., Kitoh, Y., Takeshima, Y., Narita, N., Wada, H., Yokoyama, M., Nakamura, H., and Matsuo, M. (1994). A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy. Am. J. Hum. Genet.

Hammonds, R.G., Jr. (1987). Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin. Cell 51:1

Hart, K.A., Abbs, S., and Bobrow, M. (1989). Pathogenic and non-pathogenic deletions in two families with Duchenne muscular dystrophy. Am. J. Med. Genet. 33:142-145.

Hart, K.A., Abbs, S., Wapenaar, M.C., Cole, C.G., Hodgson, S.V., and Bobrow, M. (1989). Molecular deletions in the Duchenne/Becker muscular dystrophy gene. Clin. Genet. 35:251-260.

Hart, K.A., Monaco, A.P., Kunkel, L.M., and Bobrow, M. (1987). A small deletion in the Duchenne/Becker muscular dystrophy locus; a functionally important region ? Hum. Genet. 77:88-91.

Heikoop, J.C., Hogervorst, F.B.L., Meershoek, E.J., Grootscholten, P.M., Den Dunnen, J.T., and Van Ommen, G.J.B. (1995). Expression of the human Dp71 (apo-dystrophin 1) gene from a 760 kb DMD-YAC transferred to mouse cells. Eur. J. Hum. Genet. 3:168-179.

Heilig, R., Lemaire, C., and Mandel, J.L. (1987). A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region. Nucl. Acids Res. 15:9129-9142.

Helliwell, T.R., Ellis, J.M., Mountford, R.C., Appleton, R.E., and Morris, G.E. (1992). A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane. Am. J. Hum. Genet. 50:508-514.

Hennekam, R.C.M., Veenema, H., Bakker, E., Jennekens, F.G.I., Te Velde, E.R., and De Pater, J. (1989). A male carrier for Duchenne muscular dystrophy. Am. J. Hum. Genet. 44:591-592.

Hoffman, E.P., Arahata, K., Minetti, C., Bonilla, E., and Rowland, L.P. (1992). Dystrophinopathy in isolated cases of myopathy in females. Neurol. 42:967-975.

Hoffman, E.P., Beggs, A.H., Koenig, M., Kunkel, L.M., and Angelini, C. (1989). Cross-reactive protein in Duchenne muscle. Lancet 2:1211-1212.

Hoffman, E.P., Brown, R.H., and Kunkel, L.M. (1987). Dystrophin, the protein product of the Duchenne muscular dystrophy locus. Cell 51:919-928.

Hoffman, E.P., Fischbeck, K.H., Brown, R.H., Johnson M., Medori, R., Loike, J.D., Harris, J.B., Waterston, R., Brooke, M., Specht, L., Kupsky, W., Chamberlain, J., Caskey, C.T., Shapiro, F., and Kunkel, L.M. (1988). Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. New Engl. J. Med. 318:1363-1368.

Hoffman, E.P., Fischbeck, K.H., Brown, R.H., Johnson, M., Medori, R., Loike, J.D., Harris, J.B., Waterston, R., Brooke, M.H., Specht, L., Kupsky, W., Chamberlain, J.S., Caskey, C.T., Shapiro, F., and Kunkel, L.M. (1988). Dystrophin characterization in muscle biopsies from Duchenne and Becker muscular dystrophy patients. New Engl. J. Med. 318:1363-1368.

Hoffman, E.P., Knudson, C.M., Campbell, K.P., and Kunkel, L.M. (1987). Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 330:754-757.

Hoffman, E.P. and Kunkel, L.M. (1989). Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 2:1019-1029.

Hoffman, E.P., Kunkel, L.M., Angelini, C., Clarke, A., Johnson, M., and Harris, J.B. (1989). Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurol. 39:1011-1017.

Hoffman, E.P., Monaco, A.P., Feener, C.A., and Kunkel, L.M. (1987). Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science 238:347-350.

Hofker, M.H., Bergen, A.A.B., Skraastad, M.I., Bakker, E., Francke, U., Wieringa, B., Bartley, J.A., Van Ommen, G.J.B., and Pearson, P.L. (1986). Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy. Hum. Genet. 74:275-279.

Hofker, M.H., Van Ommen, G.J.B., Bakker, E., Burmeister, M., and Pearson, P.L. (1986). Development of additional RFLP probes near the locus for Duchenne Muscular Dystrophy by cosmid cloning of the DXS84 (754) locus. Hum. Genet. 74:270-274.

Hofker, M.H., Wapenaar, M.C., Goor, N., Bakker, E., Van Ommen, G.J.B., and Pearson, P.L. (1985). Isolation of probes detecting restriction fragment length polymorphisms from X-chromosome specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum. Genet. 70:148-156.

Holder, E., Maeda, M., and Bies, R.D. (1996). Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain. Hum. Genet. 97:232-239.

Hu, X., Burghes, A.H.M., Bulman, D.E., Ray, P.N., and Worton, R.G. (1989). Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene. Am. J. Hum. Genet. 44:855-863.

Hu, X., Burghes, A.H.M., Ray, P.N., Thompson, M.W., Murphy, E.G., and Worton, R.G. (1988). Partial gene duplications in Duchenne and Becker muscular dystrophies. J. Med. Genet. 25:369-376.

Hu, X., Ray, P.N., Murphy, E., Thompson, M.W., and Worton, R.G. (1990). Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin and phenotype/genotype correlation. Am. J. Hum. Genet. 46:682-695.

Hu, X., Ray, P.N., and Worton, R.G. (1991). Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. EMBO J. 10:2471-2477.

Hugnot, J.P., Recan, D., Jeanpierre, M., Kaplan, J.C., and Tolun, A. (1991). A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD). Nucl. Acids Res. 19:3159

Hurko, O., Hoffman, E.P., McKee, L., Johns, D.R., and Kunkel, L.M. (1989). Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier. Am. J. Hum. Genet. 44:820-826.

Ibraghimov-Beskrovnaya, O., Ervasti, J.M., Leveille, C.J., Slaughter, C.A., Sernett, S.W., and Campbell, K.P. (1992). Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellukar matrix. Nature 355:696-702.

Ibraghimov-Beskrovnaya, O., Milatovich, A., Ozcelik, T., Yang, B., Koepnick, K., Francke, U., and Campbell, K.P. (1993). Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. Hum. Mol. Genet. 2:1651-1657.

Ikeya, K., Saito, K., Hayashi, K., Tanaka, H., Hagiwara, Y., Yoshida, M.C., Yamauchi, A., Fukuyama, Y., Ishiguro, T., Eguchi, C., and Ozawa, E. (1992). Molecular genetic and immunological analysis of dystrophin of a young patient with X-linked muscular dystrophy. Am. J. Med. Genet. 43:580-587.

Im, W.B., Phelps, S.F., Copen, E.H., Adams, E.G., Slightom, J.L., and Chamberlain, J.S. (1996). Differential expression of dystrophin isoforms in in strains of mdx mice with different mutations. Hum. Mol. Genet. 5:1149-1153.

Ingle, C., Williamson, R., De la Chapelle, A., Herva, R.R., Haapala, K., Bates, G.P., Willard, H.F., Pearson, P.L., and Davies, K.E. (1985). Mapping DNA sequences in a human X-chromosome deletion which extends acroos the region of the Duchenne muscular dystrophy mutation. Am. J. Hum. Genet. 37:456-462.

Ioannou, P., Christopoulos, G., Panayides, K., Kleanthous, M., and Middleton, L. (1992). Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis. Neurol. 42:1783-1790.

Ishiura, S., Arahata, K., Tsukahara, T., Koga, R., Anraku, H., Yamaguchi, M., Kikuchi, T., Nonaka, I., and Sugita, H. (1990). Antibody against the C-terminal portion of dystrophin cross-reacts with the 400kD protein in the pia mater of dystrophin-deficient mdx mouse brain. J. Biochem. 107:510-513.

Izraeli, S., Pfleiderer, C., and Lion, T. (1991). Detection of gene expression by PCR amplification of RNA derived from frozen heparinized whole blood. Nucl. Acids Res. 19:6051

Jasmin, B.J., Cartaud, A., Ludosky, M.A., Changeux, J.P., and Cartaud, J. (1990). Asymmetric distribution of dystrophin in developing and adult Torpedo marmorata electrocyte: evidence for its association with the acethylcholine receptor-rich membrane. Proc. natl. Acad. Sci. USA 87:3938-3941.

Jennekens, F.G.I., Ten Kate, L.P., De Visser, M., and Wintzen, A.R. (1991). Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy. Neuromusc. Disord. 1:389-391.

Jensen, H., Warburg, M., Sjo, O., and Schwartz, M. (1995). Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness. J. Med. Genet. 32:348-351.

Jonsson, J.J., Foresman, M.D., Wilson, N., and McIvor, R.S. (1992). Intron requirement for expression of the human purine nucleoside phosphorylase gene. Nucl. Acids Res. 20:3191-3198.

Kavaslar, G.N., Telatar, M., Serdaroglu, P., Deymeer, F., Ozdemir, C., and Tolun, A. (1995). Identification of a one-basepair deletion in exon 6 of the dystrophin gene. Hum. Mutat. 6:85-86.

Kedes, L.H. (1985). The Duchenne dystrophy gene: A great leap forward on the long march. Trends Genet. 1:205-209.

Kenwrick, S., Patterson, M., Speer, A., Fischbeck, K.H., and Davies, K.E. (1987). Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis. Cell 48:351-357.

Kenwrick, S.J., Smith, T.J., England, S.B., Collins, F.S., and Davies, K.E. (1988). Localisation of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping. Nucl. Acids Res. 16:1305-1317.

Khurana, T.S., Byers, T.J., Kunkel, L.M., Sancho, S., Tanji, K., and Miranda, A.F. (1991). Dystrophin detection in freeze-dried tissue. Lancet 338:448

Khurana, T.S., Engle, E.C., Bennett, R.R., Silverman, G.A., Selig, S., Bruns, G.A.P., and Kunkel, L.M. (1994). (CA) repeat polymorphisms in the chromosome 18 encoded dystrophin-like protein. Hum. Mol. Genet. 3:841

Kilimann, M.W., Pizzuti, A., Grompe, M., and Caskey, C.T. (1992). Point mutation and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR. Hum. Genet. 89:253-258.

King, S.C., Roche, A.L., Passos-Bueno, M.R., Takata, R., Zatz, M., Cockburn, D.J., Seller, A., Stapleton, P.M., and Love, D.R. (1995). Molecular characterization of further dystrophin gene microsatellites. Mol. Cell. Probes 9:361-370.

King, S.C., Stapleton, P.M., Walker, A.P., and Love, D.R. (1994). Two dinucleotide repeat polymorphisms at the DMD locus. Hum. Mol. Genet. 3:523

Kingston, H.M., Harper, P.S., Pearson, P.L., Davies, K.E., Williamson, R., and Page, D. (1983). Localization of the gene for Becker muscular dystrophy. Lancet 2:1200

Klamut, H.J., Gangopadhyay, S.B., Worton, R.G., and Ray, P.N. (1990). Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene. Mol. Cell. Biol. 10:193-205.

Klamut, H.J., Zubrzycka-Gaarn, E.E., Bulman, D.E., Malhotra, S.B., Bodrug, S.E., Worton, R.G., and Ray, P.N. (1989). Myogenic regulation of dystrophin gene expression. Brit. Med. Bull. 45:681-702.

Klein, C.J., Coovert, D.D., Bulman, D.E., Ray, P.N., Mendell, J.R., and Burghes, A.H.M. (1992). Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am. J. Hum. Genet. 50:950-959.

Kneppers, A.L.J., Deutz-Terlouw, P.P., Den Dunnen, J.T., Van Ommen, G.J.B., and Bakker, E. (1995). Point mutation screening for 16 exons of the dystrophin gene by multiplex Single-strand Conformation Polymorphism (SSCP) analysis. Hum. Mutat. 5:235-242.

Kochling, S., Den Dunnen, J.T., Dworniczak, B., and Horst, J. (1995). Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene. Hum. Genet. 95:475-477.

Koenig, M., Beggs, A.H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Muller, C.R., Lindlof, M., Kaariainen, H., De la Chapelle, A., Kiuru, A., Savontaus, M.L., Gilgenkrantz, H., Recan, D., Chelly, J., Kaplan, J.C., Covone, A.E., Archidiacono, N., Romeo, G., Liechti-Gallati, S., Schneider, V., Braga, S., Moser, H., Darras, B.T., Murphy, P., Francke, U., Chen, J.D., Morgan, G., Denton, M.J., Greenberg, C.R., Wrogemann, K., Blonden, L.A.J., Van Paassen, H.M.B., Van Ommen, G.J.B., and Kunk el, L.M. (1989). The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am. J. Hum. Genet. 45:498-506.

Koenig, M., Hoffman, E.P., Bertelson, C.J., Monaco, A.P., Feener, C.A., and Kunkel, L.M. (1987). Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517.

Koenig, M. and Kunkel, L.M. (1990). Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J. Biol. Chem. 265:4560-4566.

Koenig, M., Monaco, A.P., and Kunkel, L.M. (1988). The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53:219-228.

Koh, J., Bartlett, R.J., Pericak Vance, M.A., Speer, M.C., Yamaoka, L.H., Phillips, K., Hung, W.Y., Ray, P.N., Worton, R.G., Gilbert, J.R., and et al (1987). Inherited deletion at Duchenne dystrophy locus in normal male [letter]. Lancet 2:1154-1155.

Kramarcy, N.R., Vidal, A., Froehner, S.C., and Sealock, R. (1994). Association of utrophin and multiple dystrophin short forms with the mammalian Mr 58,000 dystrophin-associated protein (syntrophin). J. Biol. Chem. 269:2870-2876.

Kristjansson, K., Chong, S.S., Van den Veyver, I.B., Subramanian, S., Snabes, M.C., and Hughes, M.R. (1994). Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification. Nat. Genet. 6:19-23.

Kunkel, L.M. (1992). Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322:73-77.

Kunkel, L.M. and and 75 coauthors (1986). Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322:73-77.

Kunkel, L.M., Snyder, J.R., Beggs, A.H., Boyce, F.M., and Feener, C.A. (1991). Searching for dystrophin gene deletions in patients with atypical presentations. In: Etiology of human diseases at the DNA level. (J. Lindsten and U. Petterson, Eds). New York: Raven Press, pp. 51-60.

Laing, N.G., Walker, A.P., Akkari, P.A., Chandler, D.C., Layton, M.G., Mears, M.E., Yamada, T., Bartlett, R.J., Pericak-vance, M.A., Hung, W.-Y., Wapenaar, M.C., Van Ommen, G.J.B., Roses, A.D., and Kakulas, B.A. (1991). Identification of Duchenne muscular dystrophy probe P20 constant TaqI fragment corresponding to the EcoRV ans MspI polymorphisms. Prenatal Diagnosis 11:63-67.

Lambert, M., Chafey, P., Hugnot, J.P., Koulakoff, A., Berwald-Netter, Y., Billard, C., Morris, G.E., Kahn, A., Kaplan, J.C., and Gilgenkrantz, H. (1994). Expression of the transcripts initiated in the 62nd intron of the dystrophin gene. Neuromusc. Disord. 3:519-524.

Lasa, A., Gallano, P., and Baiget, M. (1997). Three novel point mutations in the dystrophin gene in DMD patients. Hum. Mutat. 9:473-474.

Lasa, A., Gallano, P., Colomer, J., and Baiget, M. (1995). A novel insertional mutation of a single base on exon 12 of the dystrophin gene. Clin. Genet. 48:128-130.

Lawrence, J.B., Singer, R.H., and McNeil, J.A. (1990). Interphase and metaphase resolution of different distances within the human dystrophin gene. Science 249:928-932.

Lederfein, D., Levy, Z., Augier, N., Mornet, D., Morris, G., Fuchs, O., Yaffe, D., and Nudel, U. (1992). A 71 kd protein is a major product of the Duchenne muscular dystrophy gene in brain and other non-muscle tissues. Proc. natl. Acad. Sci. USA 89:5346-5350.

Lederfein, D., Yaffe, D., and Nudel, U. (1993). A housekeeping type promoter, located in the 3' region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene. Hum. Mol. Genet. 2:1883-1888.

Lee, C.C., Pearlman, J.A., Chamberlain, J.S., and Caskey, C.T. (1991). Expression of recombinant dystrophin and its localization to the cell membrane. Nature 349:334-336.

Lemaire, C., Heilig, R., and Mandel, J.L. (1988). The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3' untranslated regions between man and chicken. EMBO J. 7:4157-4162.

Lemaire, C., Heilig, R., and Mandel, J.L. (1988). Nucleotide sequence of chicken dystrophin cDNA. Nucl. Acids Res. 16:11815-11816.

Lenk, U., Demuth, S., Kraft, U., Hanke, R., and Speer, A. (1993). Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family. J. Med. Genet. 30:206-209.

Lenk, U., Hanke, R., Kraft, U., Grade, K., Grunewald, I., and Speer, A. (1993). Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene. J. Med. Genet. 30:951-954.

Lenk, U., Hanke, R., and Speer, A. (1994). Carrier detection in DMD families with point mutations using PCR-SSCP and direct sequencing. Neuromusc. Disord. 4:411-418.

Lenk, U., Hanke, R., Thiele, H., and Speer, A. (1993). Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. Hum. Mol. Genet. 2:1877-1881.

Lev, A.A., Feener, C.C., Kunkel, L.M., and Brown, R.H., Jr. (1987). Expression of the Duchenne's muscular dystrophy gene in cultured muscle cells. J. Biol. Chem. 262:15817-15820.

Liang, P. (1993). Analysis of dystrophin gene mutations by pulsed field gel electrophoresis, Antwerp, PhD Thesis University of Antwerp.

Lidov, H.G.W., Byers, T.J., Watkins, S.C., and Kunkel, L.M. (1990). Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 348:725-728.

Lidov, H.G.W., Selig, S., and Kunkel, L.M. (1995). Dp140: a novel 140 kDA CNS transcript from the dystrophin locus. Hum. Mol. Genet. 4:329-335.

Liechti-Gallati, S., Koenig, M., Kunkel, L.M., Frey, D., Boltshauser, E., Schneider, V., Braga, S., and Moser, H. (1989). Molecular deletion patterns in Duchenne and Becker type muscular dystrophy. Hum. Genet. 81:343-348.

Lim, L.E., Duclos, F., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C., Tome, C., Fardeau, F., Jackson, M., Beckmann, C.E., and Campbell, K.P. (1995). beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat. Genet. 11:257-265.

Lindenbaum, R.H., Clarke, G., Patel, M., Moncrieff, M., and Hughes, J.T. (1979). Muscular Dystrophy in an X:1 translocation female suggests that Duchenne locus is on X-chromosome short arm. J. Med. Genet. 16:389-392.

Lindor, N.M., Sommer, S.S., Sobell, J., Heston, L., and Thibodeau, S.N. (1993). Eight novel polymorphisms in the dystrophin gene of African-Americans: the rate of polymorphism is high. Hum. Mutat. 2:485-488.

Ljunggren, A., Duggan, D., McNally, E., Boylan, K.B., Gama, C.H., Kunkel, L.M., and Hoffman, E.P. (1995). Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann. Neurol. 38:367-372.

Love, D.R., Bloomfield, J.F., Kenwrick, S.J., Yates, J.R.W., and Davies, K.E. (1990). Physical mapping distal to the DMD locus. Genomics 8:106-112.

Love, D.R., Byth, B.C., Tinsley, J.M., Blake, D.J., and Davies, K.E. (1993). Dystrophin and dystrophin-related proteins: a review of protein and RNA studies. Neuromusc. Disord. 3:5-21.

Love, D.R. and Davies, K.E. (1989). Duchenne muscular dystrophy: the gene and the protein. Mol. Biol. Med. 6:7-17.

Love, D.R., England, S.B., Speer, A., Marsden, R.F., Bloomfield, J.F., Roche, A.L., Cross, G.S., Mountford, R.C., Smith, T.J., and Davies, K.E. (1991). Sequences of junction fragments in the deletion-prone region of the dystrophin gene. Genomics 10:57-67.

Love, D.R., Flint, T.J., Genet, S.A., Middleton-Price, H.R., and Davies, K.E. (1991). Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy. J. Med. Genet. 28:860-864.

Love, D.R., Hill, D.F., Dickson, G., Spurr, N.K., Byth, B.C., Marsden, R.F., Walsh, F.S., Edwards, Y.H., and Davies, K.E. (1989). An autosomal transcript in skeletal muscle with homology to dystrophin. Nature 339:55-58.

Love, D.R., Morris, G.E., Ellis, J.M., Fairbrother, U., Marsden, R.F., Bloomfield, J.F., Edwards, Y.H., Slater, C.P., Parry, D.J., and Davies, K.E. (1991). Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouse. Proc. natl. Acad. Sci. USA 88:3243-3247.

Makover, A., Zuk, D., Breakstone, J., Yaffe, D., and Nudel, U. (1991). The brain type and muscle type promoters of the dystrophin gene differ greatly in structure. Neuromusc. Disord. 1:39-45.

Malhotra, S.B., Hart, K.A., Klamut, H.J., Thomas, N.S.T., Bodrug, S.E., Burghes, A.H.M., Bobrow, M., Harper, P.S., Thompson, M.W., Ray, P.N., and Worton, R.G. (1988). Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 242:755-759.

Matsumara, K., Ervasti, J.M., Ohlendieck, K., Kahl, S.D., and Campbell, K.P. (1992). Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature 360:588-591.

Matsumara, K., Tome, F.M.S., Collin, H., Azibi, K., Chaouch, M., Kaplan, J.C., Fardeau, M., and Campbell, K.P. (1992). Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 359:320-322.

Matsuo, M., Masumura, T., Nakajima, T., Kitoh, Y., Takumi, T., Nishio, H., Koga, J., and Nakamura, H. (1990). A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene. Biochem. Biophys. Res. Comm. 170:963-967.

McCabe, E.R.B., Towbin, J., Chamberlain, J.S., Baumbach, L.A., Selzer, W.K., Van Ommen, G.J.B., Kunkel, L.M., and Witkowski, J. (1989). cDNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency and congenital adrenal hypoplasia. J. Clin. Invest. 83:95-99.

McNally, E.M., Duggan, D., Gorospe, J.R., Bonnemann, C.G., Fanin, M., Pegoraro, E., Lidov, H.G.W., Noguchi, S., Ozawa, E., Finkel, R.S., Cruse, R.P., Angelini, C., Kunkel, L.M., and Hoffman, E.P. (1996). Mutations that disrupt the carboxyl terminus of gamma-sarcoglycan cause muscular dystrophy. Hum. Mol. Genet. 5:1841-1847.

McNally, E.M., Passos-Bueno, M.R., Bonnemann, C.G., Vainzof, M., Moreira, E.S., Lidov, H.G.W., Ben Othmane, K., Denton, P.H., Vance, J.M., Zatz, M., and Kunkel, L.M. (1996). Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am. J. Hum. Genet. 59:1040-1047.

McNally, E.M., Yoshida, M., Mizuno, Y., Ozawa, E., and Kunkel, L.M. (1994). Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proc. natl. Acad. Sci. USA 91:9690-9694.

Mcnaughton, J.C., Hughes, G., Jones, W.A., Stockwell, P.A., Klamut, H.J., and Petersen, G.B. (1997). The evolution of an intron: analysis of a long, deletion prone intron in the human dystrophin gene. Genomics 40:294-304.

Medori, R., Brooke, M.H., and Waterston, R.H. (1989). Genetic abnormalities in Duchenne and Becker dystrophies: clinical correlations. Neurol. 39:461-465.

Meitinger, T., Boyd, Y., Anand, R., and Craig, W. (1988). Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis. Genomics 3:315-322.

Meng, G., Kress, W., Scherpf, S., Bettecken, T., Feichtinger, W., Schempp, W., Schmid, M., and Muller, C.R. (1991). A comparison of the dystrophin gene structure in primates and lower vertebrates. In: Muscular dystrophy: from molecular diagnosis toward therapy. (C. Angelini, G.A. Danieli, and D. Fontanari, Eds). Amsterdam: Elsevier Scienc Publishers B.V. pp. 23-29.

Menke, A. and Jockusch, H. (1991). Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse. Nature 349:69-71.

Michels, V.V., Pastores, G.M., Moll, P.P., Driscoll, D.J., Miller, F.A., Burnett, J.C., Rodeheffer, R.J., Tajik, J.A., Beggs, A.H., Kunkel, L.M., and et al (1993). Dystrophin analysis in idiopathic dilated cardiomyopathy. J. Med. Genet. 30:955-957.

Miike, T., Miyatake, M., Zhao, J., Yoshioka, K., and Uchino, M. (1989). Immunohistochemical dystrophin reaction in synaptic regions. Brain Develop. 11:344-346.

Milasin, J., Muntoni, F., Severini, G.M., Bartoloni, L., Vatta, M., Krajinovic, M., Mateddu, A., Angelini, C., Camerini, F., Falaschi, A., Mestroni, L., Giacca, M., Pinamonti, B., Sinagra, G., Dilenarda, A., Silvestri, F., Bussani, R., and Davanzo, M. (1996). A point mutation in the 5' splice site of the dystrophin gene first intron responsible for x linked dilated cardiomyopathy. Hum. Mol. Genet. 5:73-79.

Miranda, A.F., Francke, U., Bonilla, E., Martucci, G., Schmidt, B., Salviati, G., and Rubin, M. (1989). Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy. Am. J. Med. Genet. 32:268-273.

Miyatake, M., Miike, T., Zhao, J., Yoshioka, K., Uchino, M., and Usuku, G. (1989). Possible systemic smooth muscle layer dysfunction due to a deficiency of dystrophin in Duchenne muscular dystrophy. J. Neurol. Sci. 93:11-17.

Mizuno, Y., Yoshida, M., Yamamoto, H., Hirai, S., and Ozawa, E. (1993). Distribution of dystrophin isoforms and dystrophin-associated proteins 43DAG (A3a) and 50DAG (A2) in various monkey tissues. J. Biochem. (Tokyo) 114:936-941.

Monaco, A.P. (1989). Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene. Trends Biochem. Sci. 14:412-415.

Monaco, A.P., Bertelson, C.J., Liechti-Gallati, S., Moser, H., and Kunkel, L.M. (1988). An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2:90-95.

Monaco, A.P., Bertelson, C.J., Middlesworth, W., Coletti, C.-A., Aldridge, J., Fischbeck, K.H., Bartlett, R.J., Pericak-vance, M.A., Roses, A.D., and Kunkel, L.M. (1985). Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316:842-845.

Monaco, A.P. and Kunkel, L.M. (1987). A giant locus for the Duchenne and Becker muscular dystrophy gene. Trends Genet. 3:33-37.

Monaco, A.P., Neve, R.L., Colletti-Feener, C., Bertelson, C.J., Kurnit, D.M., and Kunkel, L.M. (1986). Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323:646-650.

Monaco, A.P., Walker, A.P., Millwood, I., Larin, Z., and Lehrach, H. (1992). A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene. Genomics 12:465-473.

Morris, G.E., Nguyen, C., and Nguyen thi Man (1995). Specificity and VH sequence of two monoclonal antibodies against the N-terminus of dystrophin. Biochem. J. 309:355-359.

Moser, H. (1984). Duchenne muscular dystrophy: pathogenic aspects and genetic prevention. Hum. Genet. 66:17-40.

Muntoni, F., Cau, M., Congiu, R., Congia, M., Cao, A., and Melis, M.A. (1993). Identification of a novel T-insertion polymorphism at the DMD locus. Hum. Genet. 92:103

Muntoni, F., Cau, M., Ganau, A., Congiu, R., Arvedi, G., Mateddu, A., Marossu, M.G., Cianchetti, C., Realdi, G., Cao, A., and Melis, M.A. (1993). Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. New Engl. J. Med. 329:921-925.

Muntoni, F., Melis, M.A., Ganau, A., and Dubowitz, V. (1995). Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am. J. Hum. Genet. 56:151-157.

Muntoni, F. and Strong, P. (1989). Transcription of the dystrophin gene in Duchenne muscular dystrophy muscle. FEBS Lett. 252:95-98.

Muntoni, F., Wilson, L., Marrosu, G., Marrosu, M.G., Cianchetti, C., Mestroni, L., Ganau, A., Dubowitz, V., and Sewry, C. (1995). A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J. Clin. Invest. 96:693-699.

Murray, J.M., Davies, K.E., Harper, P.S., Meredith, L., Mueller, C.R., and Williamson, R. (1982). Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature 300:69-71.

Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y., Minami, R., Nakamura, H., and Matsuo, M. (1993). Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy [see comments]. J. Clin. Invest. 91:1862-1867.

Nawrotzki, R., Blake, D.J., and Davies, K.E. (1996). The genetic basis of neuromuscular disorders. Trends Genet. 12:294-298.

Nguyen, T.M., Ginjaar, H.B., Van Ommen, G.J.B., and Morris, G.E. (1992). Monoclonal antibodies for dystrophin analysis: epitope mapping and improved binding to SDS-treated muscle sections. Biochem. J. 288:663-668.

Nicholson, L.V.B. (1993). The "rescue" of dystrophin synthesis in boys with Duchenne muscular dystrophy. Neuromuscul. Disord. 3:525-531.

Nicholson, L.V.B., Bushby, K.M.D., Johnson, M.A., Den Dunnen, J.T., Ginjaar, H.B., and Van Ommen, G.J.B. (1992). Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame. J. Med. Genet. 29:892-896.

Nicholson, L.V.B., Davison, K., Falkous, G., Harwood, C., O'Donnell, E., Slater, C.R., and Harris, J.B. (1989). Dystrophin in skeletal muscle: I Western blot analysis using a monoclonal antibody. J. Neurol. Sci. 94:125-136.

Nicholson, L.V.B., Davison, K., Johnson, M.A., Slater, C.R., Young, C., Bhattacharya, S., Gardner-Medwin, D., and Harris, J.B. (1989). Dystrophin in skeletal muscle: II Immunoreactivity in patients with Xp21 muscular dystrophy. J. Neurol. Sci. 94:137-146.

Nicholson, L.V.B., Johnson, M.A., Bushby, K.M.D., Gardner-Medwin, D., Curtis, A., Ginjaar, H.B., Den Dunnen, J.T., Welch, J.L., Butler, T.J., Bakker, E., Van Ommen, G.J.B., and Harris, J.B. (1993). Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. I. Trends across the clinical groups. J. Med. Genet. 30:728-736.

Nicholson, L.V.B., Johnson, M.A., Bushby, K.M.D., Gardner-Medwin, D., Curtis, A., Ginjaar, H.B., Den Dunnen, J.T., Welch, J.L., Butler, T.J., Bakker, E., Van Ommen, G.J.B., and Harris, J.B. (1993). Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. II. Correlations within individual patients. J. Med. Genet. 30:737-744.

Nicholson, L.V.B., Johnson, M.A., Bushby, K.M.D., Gardner-Medwin, D., Curtis, A., Ginjaar, H.B., Den Dunnen, J.T., Welch, J.L., Butler, T.J., Bakker, E., Van Ommen, G.J.B., and Harris, J.B. (1993). Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. III. Differential diagnosis and prognosis. J. Med. Genet. 30:745-751.

Nicholson, L.V.B., Johnson, M.A., Gardner-Medwin, D., Bhattacharya, S., and Harris, J.B. (1990). Heterogeneity of dystrophin in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathologica 80:239-250.

Nigro, G., Politano, L., Nigro, V., Petretta, V.R., and Comi, L.I. (1994). Mutation of dystrophin gene and cardiomyopathy. Neuromusc. Disord. 4:371-379.

Nigro, V., Moreira, E.S., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A.A., Passos-Bueno, M.R., and Zatz, M. (1996). Autosomal recessive limb girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat. Genet. 14:195-198.

Nigro, V., Nigro, G., Esposito, M.G., Comi, L.I., Molinari, A.M., Puca, G.A., and Politano, L. (1994). Novel small mutations along the DMD/BMD gene associated with different phenotypes. Hum. Mol. Genet. 3:1907-1908.

Nigro, V., Okazaki, Y., Belsito, A., and et al. (1997). Identification of the Syrian hamster cardiomyopathy gene. Hum. Mol. Genet. 6:601-607.

Nigro, V., Piluso, G., Belsito, A., Politano, L., Puca, A.A., Papparella, S., Rossi, E., Viglietto, G., Esposito, M.G., Abbondanza, C., Medici, N., Molinari, A.M., Nigro, G., and Puca, G.A. (1996). Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum. Mol. Genet. 5:1179-1186.

Nigro, V., Politano, L., Nigro, G., Romano, S.C., Molinari, A.M., and Puca, G.A. (1992). Detection of a nonsense mutation in the dystrophin gene by multiple SSCP. Hum. Mol. Genet. 1:517-520.

Nishio, H., Takeshima, Y., Narita, N., Yanagawa, H., Suzuki, Y., Ishikawa, Y., Minami, R., Nakamura, H., and Matsuo, M. (1994). Identification of a novel first exon in the human dystrophin gene and a new promoter located more than 500 kb upstream of the nearest known promoter. J. Clin. Invest. 94:1037-1042.

Nobile, C., Galvagni, F., Marchi, J., Roberts, R., and Vitiello, L. (1995). Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3' region. Genomics 28:97-100.

Nobile, C. and Marchi, J. (1994). A refined map of YAC clones spanning the entire human dystrophin gene. Mamm. Genome 5:566-571.

Noguchi, S., McNally, E.M., Ben Othmane, K., Hagiwara, Y., Mizuno, Y., Yoshida, M., Yamamoto, H., Bonnemann, C.G., Gussoni, E., Denton, P.H., Kyriakides, T., Middleton, L., Hentati, F., Ben Hamida, M., Nonaka, I., Vance, J.M., Kunkel, L.M., and Ozawa, E. (1995). Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 270:819-822.

Nordenskjold, M., Nicholson, L.V.B., Edstrom, L., Anvret, M., Eiserman, M., Slater, C.R., and Stolpe, L. (1989). A normal male with an inherited deletion of one exon within the DMD gene. Hum. Genet. 84:207-209.

Nudel, U., Robzyk, K., and Yaffe, D. (1988). Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain. Nature 331:635-638.

Nudel, U., Zuk, D., Einat, P., Zeelon, E., Levy, Z., Neuman, S., and Yaffe, D. (1989). Duchenne muscular dystrophy gene product is not identical in muscle and brain. Nature 337:76-78.

Oronzi-Scott, M., Sylvester, J.E., Heiman-Patterson, T., Shi, Y.J., Fieles, W., Stedman, H., Burghes, A.H.M., Ray, P., Worton, R., and Fischbeck, K.H. (1988). Duchenne muscular dystrophy gene expression in normal and diseased human muscle. Science 239:1418-1420.

Ortiz-Lopez, R., Li, H., Su, J., Goytia, V., and Towbin, J.A. (1997). Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation 95:2434-2440.

Othmane, K.B., Hamida, M.B., Pericak-vance, M.A., Hamida, C.B., Blel, S., Carter, S.C., Bowcock, A.M., Petruhkin, K., Gilliam, T.C., Roses, A.D., Hentati, F., and Vance, J.M. (1992). Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat. Genet. 2:315-317.

Oudet, C., Hanauer, A., Clemens, P., Caskey, C.T., and Mandel, J.L. (1992). Two hot spots of recombination in the DMD-gene correlate with the deletion prone regions. Hum. Mol. Genet. 1:599-603.

Oudet, C., Heilig, R., Hanauer, A., and Mandel, J.L. (1991). Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination. Am. J. Hum. Genet. 49:311-319.

Oudet, C., Heilig, R., and Mandel, J.L. (1990). An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene. Hum. Genet. 84:283-285.

Ozawa, E., Yoshida, M., Suzuki, A., Mizuno, Y., Hagiwara, Y., and Noguchi, S. (1996). Dystrohpin-associated proteins in muscular dystrophy. Hum. Mol. Genet. 4:1711-1716.

Partridge, T.A., Morgan, J.E., Coulton, G.R., Hoffman, E.P., and Kunkel, L.M. (1989). Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature 337:176-179.

Passos-Bueno, M.R., Bakker, E., Kneppers, A.L.J., Takata, R.I., Rapaport, D., Den Dunnen, J.T., Zatz, M., and Van Ommen, G.J.B. (1992). Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am. J. Hum. Genet. 51:1150-1155.

Passos-Bueno, M.R., Moreira, E.S., Vainzof, M., Chmberlain, J., Marie, S.K., Pereira, L., Akiyama, J., Roberds, S.L., Campbell, K.P., and Zatz, M. (1995). A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive linmb-girdle muscular dystrophy. Hum. Mol. Genet. 4:1163-1167.

Passos-Bueno, M.R., Moreira, E.S., Vainzof, M., Marie, S.K., and Zatz, M. (1996). Linkage analysis in autosomal recessive limb girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of ar LGMD. Hum. Mol. Genet. 5:815-820.

Passos-Bueno, M.R., Rapaport, D., Flint, T., Bortolini, E.R., Zatz, M., Davies, K.E., Patterson, M.N., Bell, M.V., Bloomfield, J., Dorkins, H., Thibodeau, S.N.S., Schaid, D., Breu, G., Schwartz, C.E., Wieringa, B., Ropers, H.H., Callen, D.F., Sutherland, G., Froster-Iskenius, U., and Vissing, H. (1989). Screening of deletion patients in the dystrophin gene with cDNA probes Cf23a, Cf56a and Cf115: genetic and physical mapping of a novel region close to the fragile-X site on the human X-chromosome. G enomics 4:570-578.

Passos-Bueno, M.R., Vainzof, M., and Zatz, M. (1994). Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy. Hum. Mol. Genet. 3:919-922.

Pearce, M., Blake, D.J., Tinsley, J.M., Byth, B.C., Campbell, L., Monaco, A.P., and Davies, K.E. (1993). The utrophin and dystrophin genes share similarities in genomic structure. Hum. Mol. Genet. 2:1765-1772.

Pearson, P.L. and Van Ommen, G.J.B. (1984). Recent developments in DNA research of Duchenne Muscular Dystrophy. In: Research into the origin and treatment of Duchenne Muscular Dystrophy. Proceedings of a DMD Workshop held at "de Hooge Vuursche",Baarn. (Ten Kate, Pearson, and Stadhouders, Eds). Amsterdam: Excerpta Medica, pp. 91-100.

Pegoraro, E., Schimke, R.N., Garcia, C., Stern, H., Cadaldini, M., Angelini, C., Barbosa, E., Carroll, J., Marks, W.A., Neville, H.E., and et al (1995). Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurol. 45:677-690.

Pembrey, M.E. (1982). Does unequal crossing over contribute to the mutation rate in Duchenne Muscular Dystrophy? Am. J. Med. Genet. 12:437-441.

Phelps, S.F., Hauser, M.A., Cole, N.M., Rafael, J.A., Hinkle, R.T., Faulkner, J.A., and Chamberlain, J.S. (1995). Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Hum. Mol. Genet. 4:1251-1258.

Piccolo, F., Jeanpierre, M., Leturcq, F., Dod‚, C., Azibi, K., Toutain, A., Merlini, L., Jarre, L., Navarro, C., Krishnamoorthy, R., Tom‚, F.M.S., Urtizberea, J.A., Beckmann, J.S., Campbell, K.P., and Kaplan, J.C. (1996). A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India. Hum. Mol. Genet. 5:2019-2022.

Piccolo, F., Roberds, S.L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrie, A., Recan, D., Chaouch, M., Reghis, A., El Kerch, F., Sefiani, A., Voit, T., Merlini, L., Collin, H., Eymard, B., Beckmann, J.S., Romero, N.B., Tome, F.M.S., Fardeau, M., Campbell, K.P., and Kaplan, J.C. (1995). Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat. Genet. 10:243-245.

Picketts, D.J., D'Souza, C., Bridge, P.J., and Lillicrap, D. (1992). An A to T transversion at position -5 of the factor IX promoter results in Hemophilia B. Genomics 12:161-163.

Pillers, D.A.M., Bulman, D.E., Weleber, R.G., Sigesmund, D.A., Musarella, M.A., Powell, B.R., Murphey, W.H., Westall, C., Panton, C., Becker, L.E., Worton, R.G., and Ray, P.N. (1993). Dystrophin expression in the retina is required for normal function as defined by electroretinography. Nat. Genet. 4:82-86.

Pillers, D.A.M., Towbin, J.A., Chamberlain, J.S., Wu, D., Ranter, J., Powell, B.R., and McCabe, E.R.B. (1990). Deletion mapping of land Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. Am. J. Hum. Genet. 47:795-801.

Pillers, D.M., Weleber, R.G., Woodward, W.R., Green, D.G., Chapman, V.M., and Ray, P.N. (1995). mdxCv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy. Invest. Ophthalmol. Vis. Sci. 36:462-466.

Pizzuti, A., Pieretti, M., Fenwick, R.G., Gibbs, R.A., and Caskey, C.T. (1992). A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics 13:594-600.

Pons, F., Augier, N., Heilig, R., Leger, J., Mornet, D., and Leger, J.J. (1990). Isolated dystrophin molecules as seen by electron microscopy. Proc. natl. Acad. Sci. USA 87:7851-7855.

Powell, J.F., Fodor, F.H., Cockburn, D.J., Monaco, A.P., and Craig, I.W. (1991). A dinucleotide repeat polymorphism at the DMD locus. Nucl. Acids Res. 19:1159

Pramono, Z.A.D., Takeshima, Y., Alimsardjono, H., Ishii, A., Takeda, S., and Matsuo, M. (1996). Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence. Biochem. Biophys. Res. Commun. 226:445-449.

Prior, T.W., Bartolo, C., Papp, A.C., Snyder, P.J., Sedra, M.S., Burghes, A.H.M., and Mendell, J.R. (1994). Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16. Hum. Mol. Genet. 3:1173-1174.

Prior, T.W., Bartolo, C., Papp, A.C., Snyder, P.J., Sedra, M.S., Burghes, A.H.M., and Mendell, J.R. (1996). Nonsense mutations in a becker muscular dystrophy and an intermediate patient. Hum. Mutat. 7:72-75.

Prior, T.W., Bartolo, C., Pearl, D.K., Papp, A.C., Snyder, P.J., Sedra, M.S., Burghes, A.H.M., and Mendell, J.R. (1995). Spectrum of small mutations in the dystrophin coding region. Am. J. Hum. Genet. 57:22-33.

Prior, T.W., Papp, A.C., Snyder, P.J., Burghes, A.H.M., Bartolo, C., Sedra, M.S., Western, L.M., and Mendell, J.R. (1993). A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat. Genet. 4:357-360.

Prior, T.W., Papp, A.C., Snyder, P.J., Burghes, A.H.M., Sedra, M.S., Western, L.M., Bartolo, C., and Mendell, J.R. (1993). Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation. Hum. Mol. Genet. 2:311-313.

Prior, T.W., Papp, A.C., Snyder, P.J., Burghes, A.H.M., Sedra, M.S., Western, L.M., Bartolo, C., and Mendell, J.R. (1993). Exon 44 nonsense mutation in two Duchenne muscular dystrophy brothers detected by heteroduplex analysis. Hum. Mutat. 2:192-195.

Prior, T.W., Papp, A.C., Snyder, P.J., and Sedra, M.S. (1993). Detection of an exon 53 polymorphism in the dystrophin gene. Hum. Genet. 92:302-304.

Prior, T.W., Papp, A.C., Snyder, P.J., Sedra, M.S., Western, L.M., Bartolo, C., Moxley, R.T., and Mendell, J.R. (1994). Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection. Am. J. Med. Genet. 50:68-73.

Prior, T.W., Wenger, G.D., Papp, A.C., Snyder, P.J., Sedra, M.S., Bartolo, C., Moore, J.W., and Highsmith, W.E. (1995). Rapid DNA haplotyping using a multiplex heteroduplex approach: application to Duchenne muscular dystrophy carrier testing. Hum. Mutat. 5:263-268.

Progojin, H., Brusel, M., Fuchs, O., Shomrat, R., Legum, C., Nudel, U., and Yaffe, D. (1993). Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells. FEBS Lett. 335:223-230.

Ragot, T., Vincent, N., Chafey, P., Vigne, E., Gilgenkrantz, H., Couton, D., Cartaud, J., Briand, P., Kaplan, J.C., Perricaudet, M., and Kahn, A. (1993). Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice. Nature 361:647-650.

Rapaport, D., Lederfein, D., Den Dunnen, J.T., Grootscholten, P.M., Van Ommen, G.J.B., Fuchs, O., Nudel, U., and Yaffe, D. (1992). Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene. Differentiation 49:187-194.

Rapaport, D., Passos-Bueno, M.R., Brandao, L., Love, D., Vainzof, M., and Zatz, M. (1991). Apparent association of Mental Retardation and specific patterns of deletions screened with probes Cf56a and Cf23a in Duchenne muscular dystrophy. Am. J. Med. Genet. 39:437-441.

Ray, P.N., Belfall, B., Duff, C., Logan, C., Kean, V., Thompson, M.W., Sylvester, J.E., Gorski, J.L., Schmickel, R.D., and Worton, R.G. (1985). Cloning of the breakpoint of an X:21 translocation associated with Duchenne muscular dystrophy. Nature 318:672-675.

Read, A.P., Mountford, R.C., Forrest, S.M., Kenwrick, S.J., Davies, K.E., and Harris, R. (1988). Patterns of exon deletions in Duchenne and Becker muscular dystrophy. Hum. Genet. 80:152-156.

Reiss, J. and Rininsland, F. (1994). An explanation for the constitutive exon 9 cassette splicing of the DMD gene. Hum. Mol. Genet. 3:295-298.

Richard, I., Broux, O., Allamand, V., Fougerousse, F., Chiannilkulchai, N., Bourg, N., Brenguier, L., Devaud, C., Pasturaud, P., Roudaut, C., Hillaire, D., Passos-Bueno, M.R., Zatz, M., Tischfield, J.A., Fardeau, M., Jackson, C.E., Cohen, D., and Beckmann, J.S. (1995). Mutations in the proteolytic enzyme calpain-3 cause Limb-girdle muscular dystrophy type 2A. Cell 81:27-40.

Richards, C.S., Watkins, S.C., Hoffman, E.P., Schneider, N.R., Milsark, I.W., Katz, K.S., Cook, J.D., Kunkel, L.M., and Cortada, J.M. (1990). Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am. J. Hum. Genet. 46:672-681.

Richards, R.I. and Friend, K. (1991). Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus. J. Med. Genet. 28:856-859.

Ried, T., Mahler, V., Vogt, P., Blonden, L.A.J., Van Ommen, G.J.B., Cremer, T., and Cremer, M. (1990). Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus. Hum. Genet. 85:581-586.

Roberds, S.L., Anderson, R.D., Ibraghimov-Beskrovnaya, O., and Campbell, K.P. (1993). Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J. Biol. Chem. 268:23739-23742.

Roberds, S.L., Leturcq, F., Allamand, V., Piccolo, F., Jeanpierre, M., Anderson, R.D., Lim, L.E., Lee, J.C., Tome, F.M.S., Romero, N.B., Fardeau, M., Beckmann, J.S., Kaplan, J.C., and Campbell, K.P. (1994). Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 78:625-633.

Roberts, R.G., Barby, T.F.M., Manners, E., Bobrow, M., and Bentley, D.R. (1991). Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am. J. Hum. Genet. 49:298-310.

Roberts, R.G., Bentley, D.R., Barby, T.F.M., Manners, E., and Bobrow, M. (1990). Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA. Lancet 336:1523-1526.

Roberts, R.G., Bentley, D.R., and Bobrow, M. (1993). Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts. Hum. Mutat. 2:293-299.

Roberts, R.G., Bobrow, M., and Bentley, D.R. (1990). A MaeIII polymorphism near the dystrophin gene promoter by restriction of amplified DNA. Nucl. Acids Res. 18:1315

Roberts, R.G., Bobrow, M., and Bentley, D.R. (1992). Point mutations in the dystrophin gene. Proc. natl. Acad. Sci. USA 89:2331-2335.

Roberts, R.G., Coffey, A.J., Bobrow, M., and Bentley, D.R. (1992). Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR. Genomics 13:942-950.

Roberts, R.G., Coffey, A.J., Bobrow, M., and Bentley, D.R. (1993). Exon structure of the human dystrophin gene. Genomics 16:536-538.

Roberts, R.G., Cole, C.G., Hart, K.A., Bobrow, M., and Bentley, D.R. (1989). Rapid carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophy. Nucl. Acids Res. 17:811

Roberts, R.G., Freeman, T.C., Kendall, E., Vetrie, D.L.P., Dixon, A.K., Shawsmith, C., Bone, Q., and Bobrow, M. (1996). Characterization of DRP2, a novel human dystrophin homologue. Nat. Genet. 13:223-226.

Roberts, R.G., Gardner, R.J., and Bobrow, M. (1994). Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum. Mutat. 4:1-11.

Roberts, R.G., Passos-Bueno, M.R., Bobrow, M., Vanizof, M., and Zatz, M. (1993). Point mutation in a Becker muscular dystrophy patient. Hum. Mol. Genet. 2:75-77.

Roest, P.A.M., Bout, M., Van Der Tuijn, A.C., Ginjaar, H.B., Bakker, E., Hogervorst, F.B.L., Van Ommen, G.J.B., and Den Dunnen, J.T. (1996). Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine-rich domain of dystrophin compatible with BMD. J. Med. Genet. 33:935-939.

Roest, P.A.M., Den Dunnen, J.T., and Van Ommen, G.J.B. (1993). In vitro spierdifferentiatie: een nieuwe methode voor diagnose en draagsterschap-detectie van Duchenne en Becker spierdystrofie. NMZ Bulletin 3:7

Roest, P.A.M., Roberts, R.G., Van Der Tuijn, A.C., Heikoop, J.C., Van Ommen, G.J.B., and Den Dunnen, J.T. (1993). Protein truncation test (PTT) to rapidly screen the DMD-gene for translation-terminating mutations. Neuromusc. Disord. 3:391-394.

Roest, P.A.M., Roberts, R.G., Van Der Tuijn, A.C., Hogervorst, F.B.L., Heikoop, J.C., Van Ommen, G.J.B., and Den Dunnen, J.T. (1994). Screening for translation-terminating mutations in the DMD-gene by the Protein Truncation Test. Acta Cardiomiologica 6:17-21.

Roest, P.A.M., Van Der Tuijn, A.C., Hogervorst, F.B.L., Van Ommen, G.J.B., and Den Dunnen, J.T. (1995). Detectie en onderzoek van spierspecifieke eiwitten in niet-spiercellen mogelijk na MyoD-transfectie; toepassing bij detectie van Duchenne-spierdystrofie-draagsterschap. Ned. Tijdschr. Geneesk. 139, 2335(Abstract)">

Saad, F.A., Busque, C., Vitiello, L., and Danieli, G.A. (1993). DXS997 localized to intron 48 of dystrophin. Hum. Mol. Genet. 2:2199

Saad, F.A., Busque, C., Vitiello, L., and Danieli, G.A. (1994). DXS997 localized to intron 48 of dystrophin. Hum. Mol. Genet. 3:1034

Saad, F.A., Mostacciuolo, M.L., Trevisan, C.P., Tomelleri, G., Angelini, C., Salam, E.A., and Danieli, G.A. (1997). Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis. Hum. Mutat. 9:188-190.

Saad, F.A., Vita, G., Mora, M., Morandi, L., Vitiello, L., Oliviero, S., and Danieli, G.A. (1993). A novel nonsense mutation in the human dystrophin gene. Hum. Mutat. 2:314-316.

Saad, F.A., Vita, G., Toffolatti, L., and Danieli, G.A. (1994). A possible missense mutation detected in the dystrophin gene by double strand conformation analysis (DSCA). Neuromusc. Disord. 4:335-341.

Saad, F.A., Vitiello, L., Merlini, L., Mostacciuolo, M.L., Oliviero, S., and Danieli, G.A. (1992). A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions. Hum. Mol. Genet. 1:345-346.

Sadoulet-Puccio, H.M., Khurana, T.S., Cohen, J.B., and Kunkel, L.M. (1996). Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. Hum. Mol. Genet. 5:489-496.

Sancho, S., Mongini, T., Tanji, K., Tapscott, S.J., Walker, W.F., Weintraub, H., Miller, A.D., and Miranda, A.F. (1993). Analysis of dystrophin expression after activation of myogenesis in amniocytes, chorionic-villus cells, and fibroblasts. New Engl. J. Med. 329:915-920.

Schofield, J.N., Blake, D.J., Simmons, C., Morris, G.E., Tinsley, J.M., Davies, K.E., and Edwards, Y.H. (1994). Apo-dystrophin 1 and apo-dystrophin 2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines. Hum. Mol. Genet. 3:1309-1316.

Schwartz, L.S., Tarleton, J., Popovich, B., Seltzer, W.K., and Hoffman, E.P. (1992). Fluorescent multiplex analysis and carrier detection for Duchenne/Becker muscular dystrophy. Am. J. Hum. Genet. 51:721-729.

Sharp, N.J.H., Kornegay, J.N., Van Camp, S.D., Herbstreith, M.H., Secore, S.L., Kettle, S., Hung, W.-Y., Constantinou, C.D., Dykstra, M.J., Roses, A.D., and Bartlett, R.J. (1992). An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics 13:115-121.

Shimizu, T., Matsumura, K., Hashimoto, K., Mannen, T., Ishiguro, T., Eguchi, C., Nonaka, I., Yoshida, M., and Ozawa, E. (1988). A monoclonal antibody against a synthetic polypeptide fragment of dystrophin (amino acid sequence from position 215 to 264). Proceedings of the Japan Academy 64:205-208.

Sigesmund, D.A., Weleber, R.G., Pillers, D.A., Westall, C.A., Panton, C.M., Powell, B.R., Heon, E., Murphey, W.H., Musarella, M.A., and Ray, P.N. (1994). Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. Ophthalmology. 101:856-865.

Smith, T.J., Forrest, S.M., Cross, G.S., and Davies, K.E. (1987). Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene. Nucl. Acids Res. 15:9761-9769.

Smith, T.J., Wilson, L., Kenwrick, S.J., Forrest, S.M., Speer, A., Coutelle, C., and Davies, K.E. (1987). Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients. Nucl. Acids Res. 15:2167-2174.

Sugino, S., Fujishita, S., Kamimura, N., Matsumoto, T., Wapenaar, M.C., Deng, H.-X., Shibuya, N., Miike, T., and Niikawa, N. (1989). Molecular-genetic study of Duchenne and Becker muscular dystrophies: deletion analyses in 45 Japanese patients and segregation analyses in their families with RFLPs based on the data from normal Japanese families. Am. J. Med. Genet. 34:555-561.

Suzuki, A., Yoshida, M.C., Yamamoto, H., and Ozawa, E. (1992). Glyco-protein binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminus domain. FEBS Lett. 308:154-160.

Takeshima, Y., Nishio, H., Sakamoto, H., Nakamura, H., and Matsuo, M. (1995). Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe. J. Clin. Invest. 95:515-520.

Tamura, T., Yoshioka, K., Jinno, Y., Niikawa, N., and Miike, T. (1993). Dystrophin isoforms expressed in the mouse retina. J. Neurol. Sci. 115:214-218.

Tanaka, H., Hayashi, K., and Ozawa, E. (1991). Positive immunostaining with dystrophin antibodies in mdx skeletal muscle. Proc. Japan Acad. 67B:148-152.

Tanaka, H., Ishiguro, T., Eguchi, C., Saito, K., and Ozawa, E. (1991). Expression of a dystrophin-relared protein associated with the skeletal muscle cell membrane. Histochemistry 96:1-5.

Tennyson, C.N., Klamut, H.J., and Worton, R.G. (1995). The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat. Genet. 9:184-190.

Thanh, L.T., Nguyen, T.M., Helliwell, T.R., and Morris, G.E. (1995). Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin. Am. J. Hum. Genet. 56:725-731.

Thi Man, N., Ellis, J.M., Ginjaar, H.B., Van Paassen, H.M.B., Van Ommen, G.J.B., Moorman, A.F.M., Cartwright, A.J., and Morris, G.E. (1990). Monoclonal antibody evidence for structural similarities between the central rod regions of actinin and dystrophin. FEBS Lett. 262:237-240.

Thi Man, N., Ellis, J.M., Love, D.R., Davies, K.E., Gatter, K.C., Dickson, G., and Morris, G.E. (1991). Localization of the DMDL gene-encoded dystrophin related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in vascular and smooth muscles, and in proliferating brain cells. J. Cell Biol. 115:1695-1700.

Thi Man, N. and Morris, G.E. (1993). Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophin in muscular dystrophy. Am. J. Hum. Genet. 52:1057-1066.

Tihy, F., Fetni, R., Malfoy, B., Vogt, N., Dutrillaux, B., and Lemieux, N. (1995). Non-uniform chromatin condensation on chromosomes: comparison of different loci by two-color FISH. Am. J. Hum. Genet. 55:A120

Tinsley, J.M., Blake, D.J., and Davies, K.E. (1993). Apo-dystrophin-3: a 2.2 kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site. Hum. Mol. Genet. 2:521-524.

Tinsley, J.M., Blake, D.J., Roche, A., Fairbrother, U., Riss, J., Byth, B.C., Knight, A.E., Kendrick-Jones, J., Suthers, G.K., Love, D.R., Edwards, Y.H., and Davies, K.E. (1992). Primary structure of dystrophin-related protein. Nature 360:591-593.

Tinsley, J.M., Blake, D.J., Zuellig, R.A., and Davies, K.E. (1994). Increasing complexity of the dystrophin-associated protein complex. Proc. natl. Acad. Sci. USA 91:8307-8313.

Tinsley, J.M., Potter, A.C., Phelps, S.R., Fisher, R., Trickett, J., and Davies, K.E. (1996). Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature 384:349-353.

Tocharoentanaphol, C., Cremer, M., Schrock, E., Blonden, L.A.J., Kilian, K., Cremer, T., and Ried, T. (1994). Multi-colour fluorescence in situ hybridization on metaphase and interphase halo-preparations using cosmid and YAC clones for the simultaneous high-resolution mapping of deletions in the dystrophin gene. Hum. Genet. 93:229-235.

Todorova, A. and Danieli, G.A. (1997). Large majority of single nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis. Hum. Mutat. 9:537-547.

Tsukamoto, H., Inui, K., Matsuoka, T., Yanagihara, I., Fukushima, H., and Okada, S. (1994). One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients. Hum. Mol. Genet. 3:995-996.

Tubiello, G., Carrera, P., Soriani, N., Morandi, L., and Ferrari, M. (1995). Mutational analysis of muscle and brain specific promoter regions of dystrophin gene in DMD/BMD Italian patients by denaturing gradient gel electrophoresis (DGGE). Mol. Cell. Probes 9:441-446.

Tuffery, S., Bareil, C., Demaille, J., and Claustres, M. (1996). Four novel dystrophin point mutations: detection by the Protein Truncation Test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients. Eur. J. Hum. Genet. 4:143-152.

Tuffery, S., Demaille, J., and Claustress, M. (1992). A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene. Hum. Mutat. 1:221-223.

Tuffery, S., Lenk, U., Roberts, R.G., Demaille, J., and Claustres, M. (1995). Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum. Mutat. 6:126-135.

Tuffery, S., Moine, P., Demaille, J., and Claustres, M. (1993). Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique. Hum. Mutat. 2:368-374.

Tuffery, S., Moine, P., Demaille, J., and Claustres, M. (1995). Identification of variable length polyadenosine tract at the dystrophin locus. Hum. Genet. 95:590-592.

S. Tuffery et al. (1998). Hum. Genet. 102:334-342.

Vainzof, M., Passos-Bueno, M.R., Canovas, M., Moreira, E.S., Pavanello, R.C.M., Marie, S.K., Anderson, L.V.B., Bonnemann, C.G., McNally, E.M., Nigro, V., Kunkel, L.M., and Zatz, M. (1996). The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum. Mol. Genet. 5:1963-1969.

Vainzof, M., Takata, R.I., Passos-Bueno, M.R., Pavanello, R.C.M., and Zatz, M. (1993). Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype? Hum. Mol. Genet. 2:39-42.

Van Bakel, I., Holt, S., Craig, I., and Boyd, Y. (1995). Sequence analysis of the breakpoint regions of an X;5 translocation in a female with Duchenne muscular dystrophy. Am. J. Hum. Genet. 57:329-336.

Van Der Kooi, A.J., Barth, P.G., Busch, H.F.M., De Haan, R., Ginjaar, H.B., Van Essen, A.J., Van Hooff, L.J.M.A., Howeler, C.J., Jennekens, F.G.I., Jongen, P., Oosterhuis, H.J.G.H., Padberg, G.W.A.M., Spaans, F., Wintzen, A., Wokke, J.H.J., Bakker, E., Van Ommen, G.J.B., Bolhuis, P.A., and De Visser, M. (1996). The clinical spectrum of Limb Girdle Muscular Dystrophy: a survey in the Netherlands. Brain 119:1471-1480.

Van Essen, A.J., Abbs, S., Baiget, M., Bakker, E., Boileau, C., Van Broeckhoven, C., Bushby, K.M.D., Clarke, A., Claustres, M., Covone, A.E., Ferrari, M., Ferlini, A., Galluzzi, G., Grimm, T., Grubben, C., Jeanpierre, M., Kaariainen, H., Liechti-Gallati, S., Melis, M.A., Van Ommen, G.J.B., Poncin, J.E., Scheffer, H., Schwartz, M., Speer, A., Stuhrmann, M., Verellen-Dumoulin, C., Wilcox, D.E., and Ten Kate, L.P. (1992). Parental origin and germline mosaicism of deletions and duplications of the dystroph in gene: a European study. Hum. Genet. 88:249-257.

Van Ommen, G.J.B. (1995). A foundation for limb-girdle muscular dystrophy. Nat. Med. 1:412-414.

Van Ommen, G.J.B., Bakker, E., Bergen, A.A.B., Bonten, E.J., Burmeister, M., Hofker, M.H., Majoor-Krakauer, D., Sandkuyl, L., Simons, M.P.J.M., Skraastad, M.I., Veenema, H., Verkerk, J.M.H., and Pearson, P.L. (1986). The application of DNA probes to diagnosis and research of Duchenne muscular dystrophy: clinical trial, new probes and deletion mapping. In: Monoclonals and DNA probes in diagnostic and preventive medicine. (S. Varrone, H. Koprowski, and A. Albertini, Eds). New York: Raven Press,

Van Ommen, G.J.B., Bakker, E., Blonden, L.A.J., Bonten, E.J., Den Dunnen, J.T., Ginjaar, H.B., Kievits, T., van Paassen, M., Grootscholten, P.M., Wapenaar, M.C., and Pearson, P.L. (1989). Possibilities, pitfalls, and prospects of the diagnosis of Duchenne and Becker muscular dystrophy. In: Molecular probes: technology and medical applications. (A. Albertini, R. Paoletti, and R.A. Reisfeld, Eds). New York: Raven Press, pp. 25-32.

Van Ommen, G.J.B., Bakker, E., Hofker, M.H., Skraastad, M.I., Bergen, A.A.B., Goor, N., Sandkuyl, L., Van Essen, W.J., and Pearson, P.L. (1985). Isolation and use of X-chromosomal DNA probes for prenatal diagnosis and physical mapping of the locus for Duchenne muscular dystrophy. In: Biotechnology and diagnostics. (H. Koprowski, S. Ferrone, and A. Albertini, Eds). Amsterdam: Elsevier, pp. 255-260.

Van Ommen, G.J.B., Bertelson, C.J., Ginjaar, H.B., Den Dunnen, J.T., Bakker, E., Chelly, J., Matton, M., Van Essen, A.J., Bartley, J.A., Kunkel, L.M., and Pearson, P.L. (1987). Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: Isolation and use of J66 (DXS268), a distal intragenic marker. Genomics 1:329-336.

Van Ommen, G.J.B., Den Dunnen, J.T., Casula, L., Blonden, L.A.J., Grootscholten, P.M., Ginjaar, H.B., Van Paassen, M.H.B., Bakker, E., and Moorman, A.F.M. (1991). Duchenne and Becker muscular dystrophy mutations, studied at the gene and protein level. In: Muscular dystrophy research: from molecular diagnosis toward therapy. (C. Angelini, G.A. Danieli, and D. Fontanari, Eds). Amsterdam: Elsevier Science Publishers B.V. pp. 13-22.

Van Ommen, G.J.B., Ginjaar, H.B., Casula, L., Grootscholten, P.M., Blonden, L.A.J., Van Paassen, H.M.B., Bakker, E., Wessels, A., Moorman, A.F.M., and Den Dunnen, J.T. (1991). From dystrophy to dystrophin: tracing back structure to (dys)function. In: Frontiers in muscle research. (E. Ozawa, T. Masaki, and Y. Nabeshima, Eds). Amsterdam: Elsevier Science Publishers B.V. pp. 381-394.

Van Ommen, G.J.B., Verkerk, J.M.H., Hofker, M.H., Monaco, A.P., Kunkel, L.M., Ray, P., Worton, R.G., Wieringa, B., Bakker, E., and Pearson, P.L. (1986). A physical map of 4 million base pairs around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell 47:499-504.

Veenema, H., Leschot, N.J., Van Ommen, G.J.B., and Pearson, P.L. (1985). Het belang van recombinant-DNA onderzoek voor de opsporing van draagsters van de spierdystrofie van Duchenne. Ned. Tijdschr. Geneesk. 129:1137-1141.

Vilquin, J.T., Wagner, E., Kinoshita, I., Roy, R., and Tremblay, J.P. (1995). Successful histocompatible myoblast transplantation in dystrophin-deficient mdx mouse despite the production of antibodies against dystrophin. J. Cell Biol. 131:975-988.

Voit, T., Neuen-Jacob, E., Mahler, V., Jauch, A., and Cremer, M. (1992). Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy. Eur. J. Pediatr. 151:112-116.

Voit, T., Stuettgen, P., Cremer, M., and Goebel, H.H. (1991). Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and Western blot. Neuropediatr. 22:152-162.

Walker, A.P., Laing, N.G., Yamada, T., Chandler, D.C., Kakulas, B.A., and Bartlett, R.J. (1992). A TaqI map of the dystrophin gene useful for deletion analysis and carrier status. J. Med. Genet. 29:14-19.

Wapenaar, M.C., Kievits, T., Blonden, L.A.J., Bakker, E., Den Dunnen, J.T., Van Ommen, G.J.B., and Pearson, P.L. (1987). Hybrid cell-mediated cloning of a new intragenic sequence from the 3' region of the DMD gene. Cytogenet. Cell Genet. 46:711

Wapenaar, M.C., Kievits, T., Hart, K.A., Abbs, S., Blonden, L.A.J., Den Dunnen, J.T., Grootscholten, P.M., Bakker, E., Verellen-Dumoulin, C., Bobrow, M., Van Ommen, G.J.B., and Pearson, P.L. (1988). A deletion hotspot in the Duchenne muscular dystrophy gene. Genomics 2:101-108.

Ward, P.A., Hejtmancik, J.F., Witkowski, J.A., Baumbach, L.A., Gunnell, S., Speer, J., Hawley, P., Tantravahi, U., Caskey, C.T., and Latt, S. (1989). Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis. Am. J. Hum. Genet. 44:270-281.

Watkins, S.C., Hoffman, E.P., Slayter, H.S., and Kunkel, L.M. (1988). Immunoelectron microscopic localization of dystrophin in myofibres. Nature 333:863-866.

Webster, C., Silberstein, L., Hays, A.P., and Blau, H.M. (1988). Fast muscle fibers are preferentially affected in Duchenne muscular dystrophy. Cell 52:503-513.

Wells, D.J., Wells, K.E., Asante, E.A., Turner, G., Sunada, Y., Campbell, K.P., Walsh, F.S., and Dickson, G. (1995). Expression of human full-length and mini-dystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy. Hum. Mol. Genet. 4:1245-1250.

Wells, D.J., Wells, K.E., Walsh, F.S., Davies, K.E., Goldspink, G., Love, D.R., Chan Thomas, P., Dunckley, M.G., Piper, T., and Dickson, G. (1992). Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice. Hum. Mol. Genet. 1:35-40.

Wessels, A., Ginjaar, H.B., Moorman, A.F.M., and Van Ommen, G.J.B. (1991). Different localization of dystrophin in developing and adult human skeletal muscle. Muscle and Nerve 14:1-7.

Whittaker, P.A., Wood, L., Mathrubutham, M., and Anand, R. (1993). Generation of ordered phage sublibraries of YAC clones: construction of a 400-kb phage contig in the human dystrophin gene. Genomics 15:453-456.

Whittock NV, Roberts RG, Mathew CG, Abbs SJ (1997). Dystrophin point mutation screening using a multiplexed Protein Truncation Test. Genet Testing 1:115-123.

Wieacker, P., Davies, K.E., Pearson, P.L., and Ropers, H.H. (1983). Carrier Detection in Duchenne muscular dystrophy by use of cloned DNA sequences. Lancet 2:1325-1327.

Wilcox, D.E., Cooke, A., Colgan, J., Boyd, E., Aitken, D.A., Sinclair, L., Glasgow, L., Stephenson, J.B.P., and Ferguson-Smith, M.A. (1986). Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry. Hum. Genet. 73:175-180.

Wilton, S.D., Chandler, D.C., Kakulas, B.A., and Laing, N.G. (1994). Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. Hum. Mutat. 3:133-140.

Wilton, S.D., Johnsen, R.D., Pedretti, J.R., and Laing, N.G. (1993). Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation. Am. J. Med. Genet. 46:563-569.

Winnard, A.V., Jia-Hsu, Y., Gibbs, R.A., Mendell, J.R., and Burghes, A.H.M. (1992). Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum. Mol. Genet. 1:645-646.

Winnard, A.V., Klein, C.J., Coovert, D.D., Prior, T.W., Papp, A.C., Snyder, P.J., Bulman, D.E., Ray, P.N., McAndrew, P., King, W.M., Moxley, R.T., Mendell, J.R., and Burghes, A.H.M. (1993). Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy. Hum. Mol. Genet. 2:737-744.

Winnard, A.V., Mendell, J.R., Prior, T.W., Florence, J., and Burghes, A.H.M. (1995). Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am. J. Hum. Genet. 56:158-166.

Witkowski, J.A. (1988). The molecular genetics of Duchenne muscular dystrophy: the beginning of the end? Trends Genet. 4:27-31.

Wood, L. and Whittaker, P.A. (1994). Mapping of 386 kb of genomic DNA in the human dystrophin-encoding gene (DYS) using an ordered lambda sublibrary of a YAC clone containing the DYS region. Gene 138:233-237.

Worley, K.C., Ellison, K.A., Zhang, Y.H., Wang, D.F., Mason, J., Roth, E.J., Adams, V., Fogt, D.D., Zhu, X.M., Towbin, J.A., Chinault, A.C., Zoghbi, H.Y., and McCabe, E.R.B. (1993). Yeast artificial chromosome cloning in the Glycerol Kinase and Adrenal Hypoplasia Congenita region of Xp21. Genomics 16:407-416.

Worley, K.C., Towbin, J.A., Zhu, X.M., Barker, D.F., Ballabio, A., Chamberlain, J., Biesecker, L.G., Blethen, S.L., Brosnan, P., Fox, J.E., Rizzo, W.B., Romeo, G., Sakuragawa, N., Seltzer, W.K., Yamaguchi, S., and McCabe, E.R.B. (1992). Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics 13:

Worton, R.G. (1995). Muscular dystrophies: diseases of the dystrophin-glycoprotein complex. Science 270:755-756.

Worton, R.G., Duff, C., Sylvester, J.E., Schmickel, R.D., and Willard, H.F. (1984). Duchenne muscular dystrophy involving translocation of the DMD gene next to ribosomal DNA genes. Science 224:1447-1448.

Worton, R.G. and Thompson, M.W. (1988). Genetics of Duchenne muscular dystrophy. Annu. Rev. Genet. 22:601-629.

Wulff, K., Herrmann, F.H., Wapenaar, M.C., and Van Ommen, G.J.B. (1989). Deletion screening in patients with Duchenne muscular dystrophy. J. Neurol. 236:470-473.

Yau, S.C., Bobrow, M., Mathew, C.G., and Abbs, S. (1996). Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 33:550-558.

Yau, S.C., Roberts, R.G., Bentley, D.R., Mathew, C.G., and Bobrow, M. (1991). A MseI polymorphism in exon 48 of the dystrophin gene. Nucl. Acids Res. 19:5803

Yoshida, M. and Ozawa, E. (1990). Glycoprotein complex anchoring dystrophin to sarcolemma. J. Biochem. 108:748-752.

Yoshida, M., Suzuki, A., Shimizu, T., and Ozawa, E. (1992). Proteinase-sensitive sites on isolated rabbit dystrophin. J. Biochem. 112:433-439.

Yoshida, M., Suzuki, A., Yamamoto, H., Noguchi, S., Mizuno, Y., and Ozawa, E. (1994). Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside. Eur. J. Biochem. 222:1055-1061.

Zatz, M., Passos-Bueno, M.R., Rapaport, D., and Vainzof, M. (1991). Familial occurence of Duchenne dystrophy through paternal lines in four families. Am. J. Med. Genet. 38:80-84.

Zatz, M., Passos-Bueno, M.R., Vainzof, M., and Pavanello, R.C.M. (1989). Hypothesis: the existence of embryonic and adult isoforms of mRNA dystrophin provides an explanation for unusual clinical findings. Am. J. Hum. Genet. 32:438-441.

Zatz, M., Vianna-Morgante, A.M., Campos, P., and Diament, A.J. (1981). Translocation (X;6) in a female with Duchenne muscular dystrophy; implications for the localisation of the DMD locus. J. Med. Genet. 18:442-447.

Zubrzycka-Gaarn, E.E., Bulman, D.E., Karpati, G., Burghes, A.H.M., Belfall, B., Klamut, H.J., Talbot, J., Hodges, R.S., Ray, P.N., and Worton, R.G. (1988). The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 333:466-469.



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