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When refering to this database please cite White SJ, den Dunnen JT (2006). Copy number variation in the genome; the human DMD gene as an example. Cytogenet.Genome Res. 115: 240-246.
NOTE: the link to the DMD reading frame checker moved to below under "Graphical displays and utilities".
An overview of del/dup frequencies per country, not all included in this database, can be found here.
NOTE: for small sequence changes (point mutations) go to the DMD gene variant database.
LOVD - Variant listings for DMD_d

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+/? _0-Dp427m_4i c.(-127947_-244)_264+?del
    + c.0		 - r.0? p.0? DMD_e1e4 Dp427c present germline (inherited) - DNA MAPH, PCRm - - muscular dystrophy, Duchenne (DMD) - :Izmir - Turkey - M unknown - - 1 - -
+/? _0-Dp427m_1i c.-13496_31+1783del
    + c.0, DMD (2)		 - r.0? p.0? DMD_e1 15.3 kb deletion germline (inherited) Muntoni, Bastianutto 2002, GenBank DNA PCR, SEQ - - CMD-3B - JdD family with 4 affected males Italy - M familial - - 4 - -
+/? _0-Dp427m_1i c.-1443_31+4726delinsTTTTTAAAATTA
    + c.0, DMD (2)		 - r.0? p.0? DMD_e1 6.2 Kb deletion germline (inherited) Bastianutto 2002, GenBank DNA PCR, SEQ - - CMD-3B - JdD - Netherlands - M unknown - - 1 - -
+/? _0-Dp427c_79_ c.(?_-128297)_(*2691_?)del
    + c.0		 - r.0? p.0? DMD_e1e79 whole gene deletion incl. Dp427c germline (inherited) - DNA MAPH, Southern - - muscular dystrophy, Duchenne (DMD) - Netherlands:Leiden - Netherlands - M unknown - - 1 - -
+/? _0-Dp427c_79_ c.(?_-128297)_(*2691_?)del
    + c.0		 chrX:g.(?_31042316)_(33268716_?)del r.0 - DMD_e1e79 >2.3 Mb whole gene deletion germline (inherited) delGaudio 2008 DNA arrayCGH - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - United States - M unknown - - 1 - -
+/? _0-Dp427c_79_ c.(?_-128297)_(*2691_?)del
    + c.=		 chrX:g.(?_31042316)_(33268716_?)del r.0 - DMD_e1e79 >2.3 Mb whole gene deletion germline (inherited) delGaudio 2008 DNA arrayCGH - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD carrier female United States - F unknown - - 1 - -
+/? _0-Dp427c_79_ c.(?_-128297)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 deletion incl. Dp427c germline (inherited) - DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - Netherlands:Leiden - Netherlands - M unknown - - 1 - -
+/? _0-Dp427c_79_ c.(?_-128297)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 deletion incl. Dp427c germline (inherited) - DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - Netherlands:Leiden - Netherlands - M unknown - - 1 - -
+/? _0-Dp427c_79_ c.(?_-128297)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 ARX/PRRG1 present, IL1RAPl1, NR0B1, GK deleted germline (inherited) Piko 2009 DNA MLPA - - muscular dystrophy, Duchenne (DMD);GKD;AHC;MR - JdD - Hungary - ? unknown - - 1 - -
+/? _0-Dp427c_79_ c.(?_-128297)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 ARX/PRRG1 present, IL1RAPl1, NR0B1, GK deleted germline (inherited) Piko 2009 DNA MLPA - - muscular dystrophy, Duchenne (DMD);GKD;AHC;MR - JdD - Hungary - ? unknown - - 1 - -
+/? _0-Dp427c_79_ c.(?_-128297)_(*2691_?)del
    + c.0		 Dp427p; Dp427c r.0 - DMD_e1e79 deletion incl. Dp427c germline (inherited) Flanigan 2009 DNA PCR - - muscular dystrophy, Duchenne (DMD) - see www.genome.utah.edu/DMD/index.shtml - United States - M unknown - - 1 - -
+/? _0-Dp427c_79_ c.(?_-128297)_(*2691_?)del
    + c.0		 - r.0 - DMD_e1e79 deletion incl. Dp427c germline (inherited) Flanigan 2009 DNA PCR - - muscular dystrophy, Duchenne (DMD) - see www.genome.utah.edu/DMD/index.shtml - United States - M unknown - - 1 - -
?/? _0-Dp427c_ c.(?_-128297)_(-127947_-244)del
    + c.0		 - r.? p.? DMD_e1c deletion Dp427c (brain) promoter only unknown - DNA PCR - - dystrophy, muscular, Duchenne (DMD) - JdD - United States - M unknown - - 1 - -
+/? _0-Dp427c_1i c.(?_-128297)_31+83220+?del
    + c.0		 - r.0? p.0? DMD_e0e1 deletion incl. Dp427c, Dp427p germline (inherited) - DNA MAPH, PCRm - - muscular dystrophy, Duchenne (DMD) - :Izmir - Turkey - M unknown - - 1 - -
+/? _0-Dp427c_1i c.(?_-128297)_31+83220+?del
    + c.0		 - r.0? p.0? DMD_e0e1 deletion incl. Dp427c, Dp427p germline (inherited) Flanigan 2009 DNA PCR - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - see www.genome.utah.edu/DMD/index.shtml - United States - M unknown - - 1 - -
+/? _0-Dp427c_1i c.(?_-128297)_31+83220+?del
    + c.0		 Dp427c,Dp427p r.0 - DMD_e0e1 deletion incl. Dp427c, Dp427p germline (inherited) Flanigan 2009 DNA PCR - - muscular dystrophy, Duchenne (DMD) - see www.genome.utah.edu/DMD/index.shtml - United States - M unknown - - 1 - -
+/? _0-Dp427c_1i c.(?_-128297)_31+83220+?del
    + c.0		 Dp427c,Dp427p r.0 - DMD_e0e1 deletion incl. Dp427c, Dp427p germline (inherited) Flanigan 2009 DNA PCR - - muscular dystrophy, Duchenne (DMD) - see www.genome.utah.edu/DMD/index.shtml - United States - M unknown - - 1 - -
+/? _0-Dp427c_1i c.(?_-128297)_31+?del
    + c.0		 - r.0? p.0? DMD_e0e1 deletion includes Dp427c germline (inherited) - DNA PCRm - - muscular dystrophy, Duchenne (DMD) - Yugoslavia:Belgrade - Serbia/Montenegro - M unknown - - 1 - -
+/? _0-Dp427c_1i c.(?_-128297)_31+?del
    + c.0		 - r.0? p.0? DMD_e0e1 deletion includes Dp427c germline (inherited) Jorge ESHG2006 P1191 DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - Portugal - M unknown - - 2 - -
+/? _0-Dp427c_1i c.(?_-128297)_31+?del
    + c.0		 chrX:g.(33109254_33109360)_(33268716_38091392)del r.0? - DMD_e0e1 159.4 Kb deletion germline (inherited) delGaudio 2008 DNA arrayCGH - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - United States - M unknown - - 1 - -
+/? _0-Dp427c_1i c.(?_-128297)_31+?del
    + c.0		 - r.0? p.0? DMD_e0e1 deletion includes Dp427c germline (inherited) - DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - Netherlands:Leiden - Netherlands - M unknown - - 1 - -
+/? _0-Dp427c_1i c.(?_-128297)_31+?del
    + c.0		 - r.0? p.0? DMD_e0e1 deletion includes Dp427c germline (inherited) - DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - Netherlands:Leiden - Netherlands - M unknown - - 1 - -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0? p.0? DMD_e1e79 whole gene deletion germline (inherited) - DNA PCRm - - muscular dystrophy, Duchenne (DMD) - France:Montpellier - France - M unknown - - 1 - -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0? p.0? DMD_e1e79 - germline (inherited) Vancso ESHG2008 P01.221 DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - Hungary - M unknown - - 2 - -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 deletion incl. IL1-RAPL1, DAX1, GK germline (inherited) Zhang 2004 DNA PCR - - muscular dystrophy, Duchenne (DMD);MR;AHC;GKD - JdD - - - M unknown - - 1 - -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 deletion incl. IL1-RAPL1 Ex07_11, DAX1, GK germline (inherited) Zhang 2004 DNA PCR - - muscular dystrophy, Duchenne (DMD);MR;AHC;GKD - JdD - - - M unknown - - 1 - -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 deletion incl. IL1-RAPL1, DAX1, GK germline (inherited) Zhang 2004 DNA PCR - - muscular dystrophy, Duchenne (DMD);MR;AHC;GKD - JdD - - - M unknown - - 1 - -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 deletion incl. IL1-RAPL1, DAX1, GK germline (inherited) Zhang 2004 DNA PCR - - muscular dystrophy, Duchenne (DMD);MR;AHC;GKD - JdD - - - M unknown - - 1 - -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 deletion incl. IL1-RAPL1 (partial), DAX1, GK germline (inherited) Zhang 2004 DNA PCR - - muscular dystrophy, Duchenne (DMD);MR;AHC;GKD - JdD - - - M unknown - - 1 - -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 deletion incl. DAX1, GK germline (inherited) Zhang 2004 DNA PCR - - muscular dystrophy, Duchenne (DMD);MR;GKD - JdD - - - M unknown - - 1 - -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0 p.0 DMD_e1e79 deletion incl. GK germline (inherited) Zhang 2004 DNA PCR - - muscular dystrophy, Duchenne (DMD);MR;GKD - JdD - - - M unknown - - 1 - -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0? p.0? DMD_e1e79 del ~4Mb (L1+, J66-H1-, 754-, cX54+) germline (inherited) Chelly 1988, UMD-727 DNA PCRm, Southern, PFGE - - muscular dystrophy, Duchenne (DMD);GKD;AHC;MR poor psychomotor development; 9m-biopsy numerous necrotic muscle fibers, foci regenerating fibers, discrete type 1 fiber predominance, marked increase collagen endomysial tissue JdD mother carrier (France) - M unknown - - 2 >3000 -
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0? p.0? DMD_e1e79 - germline (inherited) Tuffery-Giraud 2009, UMD-1592 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD - France - M familial - - 1 - NO
+/? _0-Dp427m_79_ c.(?_-244)_(*2691_?)del
    + c.0		 - r.0? p.0? DMD_e1e79 - germline (inherited) Tuffery-Giraud 2009, UMD-2476 DNA MLPA - - muscular dystrophy, Duchenne (DMD) glycerol kinase deficiency JdD - France - M unknown - - 1 - NO
+/? _0-Dp427m_19 c.(?_-244)_(2380_4071)del
    + c.0		 - r.0? p.0? DMD_MP1MP19 - germline (inherited) - DNA PCRm - - muscular dystrophy, Duchenne (DMD) - Belgrade - Canada - M unknown - - 1 - -
+/? _0-Dp427m_1i c.(?_-244)_(31+83135_?)del
    + c.0		 - r.0? p.0? DMD_e1 inherited maternal grand mother germline (inherited) Carsana DNA qfPCR - - muscular dystrophy, Duchenne (DMD) - JdD - Italy - M familial - - 1 - -
+/? 0_1i c.(?_-244)_(31+83220_94-1)del
    + c.0		 - r.0? p.0 DMD_99012 deletion muscle and Purkinje promoter unknown Carsana 2010 DNA PCRq, PCR - - dystrophy, muscular, (Duchenne/Becker) - Italy:Napoli 1 unrelated cases Italy - M isolated (sporadic) - - 1 - -
+/? _0-Dp427m_? c.(?_-244)_(6912_7660)del
    + c.0		 - r.0? p.0? DMD_00000 deletion all exons cDNA97-1 into cDNA44-1 germline (inherited) Baumbach DNA Southern - - muscular dystrophy, Duchenne (DMD) - JdD - United States - M unknown - - 1 - -
+/? _0-Dp427m_9 c.(?_-244)_(960_1231)del
    + c.0		 - r.0? p.0? DMD_MP1MP9 - germline (inherited) Taylor 2007 DNA PCRm - - muscular dystrophy, Duchenne (DMD) - Australia:Sydney - Australia - M unknown - - 1 5000 -
+/? _0-Dp427m_73i c.(?_-244)_10394+?del
    + c.?		 - r.0? p.0? DMD_e1e73 - germline (inherited) Hwa 2007 DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - Taiwan - ? unknown - - 1 - -
+/? _0-Dp427m_11i c.(?_-244)_1331+?dup
    + c.0		 - r.? p.? DMD_e1e11b - germline (inherited) Zeng 2007 DNA aMLPA - - muscular dystrophy, Duchenne (DMD) - JdD - China - M unknown - - 1 - -
+/? _0-Dp427m_12i c.(?_-244)_1482+?del
    + c.0		 - r.0? p.0? DMD_e1e12 - germline (inherited) Jorge ESHG2006 P1191 DNA MLPA, PCRm, Southern - - dystrophy, muscular, Duchenne/Becker (BMD/DMD) - Portugal:Porto - Portugal - M familial, X-linked recessive ? - 1 14,640 unknown
+/? _0-Dp427m_13i c.(?_-244)_1602+?del
    + c.0		 - r.0? p.0? DMD_e1e13 - germline (inherited) Hodgson DNA Southern - - muscular dystrophy, Duchenne (DMD) - JdD - United Kingdom - M unknown - - 1 - -
+/? _0-Dp427m_3i c.(?_-244)_186+?del
    + c.0		 - r.0? p.0? DMD_e1e3 - germline (inherited) Yuge DNA PCRm, Southern - - muscular dystrophy, Duchenne (DMD) - JdD - China - M unknown - - 1 - -
+/? _0-Dp427m_17i c.(?_-244)_2168+?del
    + c.0		 - r.0? p.0? DMD_e1e17 - germline (inherited) - DNA Southern - - muscular dystrophy, Duchenne (DMD) - :Sao Paulo - Brazil - M unknown - - 1 - -
+/? _0-Dp427m_18i c.(?_-244)_2292+?del
    + c.0		 - r.0? p.0? DMD_e1e18 - germline (inherited) - DNA Southern - - muscular dystrophy, Duchenne (DMD) - :Sao Paulo - Brazil - M unknown - - 1 - -
+/? _0-Dp427m_18i c.(?_-244)_2292+?del
    + c.0		 - r.0? p.0? DMD_e1e18 - germline (inherited) Prior 2005 DNA PCR, Southern - - muscular dystrophy, Duchenne (DMD) - JdD - United States - M unknown - - 1 - -
+/? _0-Dp427m_18i c.(?_-244)_2292+?del
    + c.=		 del1-18 r.0? p.0? DMD_e1e18 - germline (inherited) Kalman 2011 DNA arraySNP, MLPA - - - - JdD female DMD carrier - - F unknown - - 1 - -
+/? _0-Dp427m_19i c.(?_-244)_2380+?del
    + c.?		 - r.0? p.0? DMD_e1e19 - germline (inherited) Giliberto DNA PCRm - - muscular dystrophy, Duchenne (DMD) - JdD - Argentina - - unknown - - 1 - -
+/? _0-Dp427m_20i c.(?_-244)_2622+?dup
    + c.0		 - r.? p.? DMD_e1e20b - germline (inherited) Prior 2005 DNA PCR, Southern - - muscular dystrophy, Duchenne (DMD) - JdD - United States - M unknown - - 1 - -
+/? _0-Dp427m_4i c.(?_-244)_264+?del
    + c.0		 - r.0? p.0? DMD_e1e4 - germline (inherited) Yuge DNA PCRm, Southern - - muscular dystrophy, Duchenne (DMD) - JdD - China - M unknown - - 1 - -
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? p.0? DMD_e1 - germline (inherited) - DNA PCRm - - muscular dystrophy, Duchenne (DMD) - France:Montpellier - France - M unknown - - 1 - -
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? p.0? DMD_e1 - germline (inherited) - DNA PCRm - - muscular dystrophy, Duchenne (DMD) - Bulgaria:Sofia - Bulgaria - M unknown - - 1 - -
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0 p.0 DMD_e1 deletion from 5'DYS MSB to Dp427p promoter (Purkinje) germline (inherited) Frisso DNA Southern, PCR - - muscular dystrophy, Duchenne (DMD) - JdD - Italy - M unknown - - 2 5000 WB no DMD
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? p.0? DMD_e1 Dp427c present germline (inherited) Beggs, Hoffman DNA PCRm, Southern - - muscular dystrophy, Becker (BMD) - JdD - United States - M unknown - - 1 - -
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.?		 - r.0? p.0? DMD_e1 no Dp427m RNA, in muscle Dp427c transcript (not in heart) germline (inherited) Muntoni, Muntoni, (OMIM 0021) DNA MAPH, Southern - - CMD-3B - Neri, JdD - - - - unknown - - 1 - -
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? p.0? DMD_e1 - germline (inherited) - DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - Netherlands:Leiden - Netherlands - M unknown - - 1 - -
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? p.0? DMD_e1 del incl. promotor germline (inherited) Abbadi 1994, UMD-2914 DNA Southern - - muscular dystrophy, Duchenne (DMD) - JdD - (France) - M familial - - 1 - NO
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.=		 - r.0? p.0? DMD_e1 del incl. promotor germline (inherited) Abbadi 1994, UMD-2915 DNA Southern - - muscular dystrophy, Duchenne (manifesting carrier) - JdD - (France) - F familial - - 1 - -
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? p.0? DMD_e1 - germline (inherited) Tuffery-Giraud 2009, UMD-1594 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD - France - M unknown - - 1 - NO
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? p.0? DMD_e1 - germline (inherited) Tuffery-Giraud 2009, UMD-1987 DNA MLPA - - muscular dystrophy, Becker (BMD) cardiac symptoms JdD - France - M unknown - - 1 - NO
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? p.0? DMD_e1 - germline (inherited) Tuffery-Giraud 2009, UMD-2430 DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - France - M familial - - 1 - NO
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? p.0? DMD_e1 del incl. promotor; de novo, in patient de novo Tuffery-Giraud 2009, UMD-3007 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD - France - M isolated (sporadic) - - 1 - NO
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? p.0? DMD_e1 - germline (inherited) Tuffery-Giraud 2009, UMD-703 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD - (France) - M familial - - 1 - NO
+/? _0-Dp427m_1i c.(?_-244)_31+?del
    + c.0		 - r.0? - DMD_e1 - germline (inherited) Flanigan 2009 DNA PCR - - muscular dystrophy, Duchenne (DMD) - see www.genome.utah.edu/DMD/index.shtml - United States - M unknown - - 1 - -
+/? _0-Dp427m_1i c.(?_-244)_31+?dup
    + c.0, c.6439-?_6912+?del		 - r.? p.? DMD_e1b - germline (inherited) - DNA MLPA - - muscular dystrophy, Becker (BMD) - Netherlands:Leiden - Netherlands - M unknown - - 1 - -
-/? _0-Dp427m_1i c.(?_-244)_31+?dup
    + c.0, c.5923-?_6290+?dup		 - r.? p.? DMD_e1b - germline (inherited) - DNA MLPA - - muscular dystrophy, Duchenne (DMD) - Mexico:Guadalajara - Mexico - M unknown - - 1 - -
+?/? _0-Dp427m_1i c.(?_-244)_31+?dup
    + c.0		 - r.(=?) p.(=?) DMD_e1b duplication Dp427m promoter germline (inherited) PhD thesis A.Estherhuizen (Cape Town) DNA MLPA - - muscular dystrophy, Duchenne (DMD) calf hypertrophy, waddling, toe-walking JdD proband South Africa - M familial - - 1 >10000 IHC no DMD
+?/? _0-Dp427m_1i c.(?_-244)_31+?dup
    + c.0		 - r.(=?) p.(=?) DMD_e1b duplication Dp427m promoter germline (inherited) PhD thesis A.Estherhuizen (Cape Town) DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD affected brother South Africa - M unknown - - 1 - -
?/? _0-Dp427m_1i c.(?_-244)_31+?dup
    + c.5923-?_6290+?dup		 - r.? p.? DMD_e1b - germline (inherited) - DNA MLPA - - muscular dystrophy, intermediate (to Duchenne and Becker) Intermediate phenotype, not severe DMD but not Becker phenotype Mexico:Mexico City - Mexico mestizo F unknown - - 1 - -
+/? _0-Dp427m_25i c.(?_-244)_3432+?del
    + c.0		 - r.0? p.0? DMD_e1e25 - germline (inherited) - DNA Southern - - muscular dystrophy, Duchenne (DMD) - Netherlands:Leiden - Netherlands - M unknown - - 1 - -
+/? _0-Dp427m_5i c.(?_-244)_357+?del
    + c.0		 - r.0? p.0? DMD_e1e5 - germline (inherited) Janssen 2005 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - Germany:Heidelberg - (Germany) - M unknown - - 1 - -
+/? _0-Dp427m_30i c.(?_-244)_4233+?del
    + c.0		 - r.0? p.0? DMD_e1e30 - germline (inherited) Vancso ESHG2008 P01.221 DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - Hungary - M unknown - - 1 - -
+/? _0-Dp427m_41i c.(?_-244)_5922+?del
    + c.0		 - r.0? p.0? DMD_e1e41 - germline (inherited) - DNA MLPA - - DMD clinical signs of muscle weakness Australia:SYDNEY - ? (unknown) - M unknown - - 1 42,000 U/L -
+/? _0-Dp427m_43i c.(?_-244)_6290+?del
    + c.0		 - r.0? p.0? DMD_e1e43 - germline (inherited) Prior 2005 DNA PCR, Southern - - muscular dystrophy, Duchenne (DMD) - JdD - United States - M unknown - - 2 - -
+/? _0-Dp427m_43i c.(?_-244)_6290+?del
    + c.0		 - r.0? p.0? DMD_e1e43 - germline (inherited) Tuffery-Giraud 2009, UMD-1820 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD - France - M unknown - - 1 - NO
+/? _0-Dp427m_43i c.(?_-244)_6290+?del
    + c.0		 - r.0? p.0? DMD_e1e43 - germline (inherited) Tuffery-Giraud 2009, UMD-2529 DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - France - M familial - - 1 - NO
+/? _0-Dp427m_44i c.(?_-244)_6438+?del
    + c.0		 - r.0? p.0? DMD_e1e44 - germline (inherited) Taylor 2007 DNA PCRm - - muscular dystrophy, Duchenne (DMD) - Australia:Sydney - Australia - M unknown - - 1 1275 -
+/? _0-Dp427m_44i c.(?_-244)_6438+?del
    + c.0		 - r.0? p.0? DMD_e1e44 - germline (inherited) - DNA Southern - - muscular dystrophy, Duchenne (DMD) - :Sao Paulo - Brazil - M unknown - - 1 - -
+/? _0-Dp427m_44i c.(?_-244)_6438+?del
    + c.0		 - r.0? p.0? DMD_e1e44 - germline (inherited) Vancso ESHG2008 P01.221 DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - Hungary - M unknown - - 1 - -
+/? _0-Dp427m_44i c.(?_-244)_6438+?del
    + c.0		 - r.0? p.0? DMD_e1e44 del incl. promotor germline (inherited) Tuffery-Giraud 2009, UMD-3014 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD - France - M familial - - 1 - NO
+/? _0-Dp427m_7i c.(?_-244)_649+?del
    + c.0		 - r.0? p.0? DMD_e1e7 - germline (inherited) Gilgenkrantz DNA Southern - - muscular dystrophy, Duchenne (DMD) - JdD - France - M unknown - - 1 - -
+/? _0-Dp427m_7i c.(?_-244)_649+?del
    + c.?		 - r.0? p.0? DMD_e1e7 - germline (inherited) Mital DNA PCRm, Southern - - muscular dystrophy, Duchenne (DMD) - JdD - Italy - - unknown - - 1 1315 -
+/? _0-Dp427m_7i c.(?_-244)_649+?del
    + c.0		 - r.0? p.0? DMD_e1e7 - germline (inherited) Flanigan 2009 DNA PCR - - muscular dystrophy, Duchenne (DMD) - see www.genome.utah.edu/DMD/index.shtml - United States - M unknown - - 1 - -
+/? _0-Dp427m_7i c.(?_-244)_649+?del
    + c.0		 - r.0? p.0? DMD_e1e7 - germline (inherited) - DNA Southern - - muscular dystrophy, Duchenne (DMD) - :Sao Paulo - Brazil - M unknown - - 1 - -
+/? _0-Dp427m_7i c.(?_-244)_649+?del
    + c.0		 - r.0? p.0? DMD_e1e7 - germline (inherited) Zeng 2007 DNA aMLPA - - muscular dystrophy, Duchenne (DMD) - JdD - China - M unknown - - 1 - -
+/? _0-Dp427m_7i c.(?_-244)_649+?del
    + c.0		 - r.0? p.0? DMD_e1e7 - germline (inherited) Tuffery-Giraud 2009, UMD-1863 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD - France - M unknown - - 1 - NO
+/? _0-Dp427m_7i c.(?_-244)_649+?del
    + c.0		 - r.0? p.0? DMD_e1e7 - germline (inherited) Tuffery-Giraud 2009, UMD-1909 DNA MLPA - - muscular dystrophy, Becker (BMD) - JdD - (France) - M unknown - - 1 - IHC DMD decreased
+/? _0-Dp427m_7i c.(?_-244)_649+?del
    + c.0		 - r.0? p.0? DMD_e1e7 - germline (inherited) Tuffery-Giraud 2009, UMD-2562 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD - France - M familial - - 1 - NO
+/? _0-Dp427m_47i c.(?_-244)_6912+?del
    + c.0		 - r.0? p.0? DMD_e1e47 - germline (inherited) - DNA PCRm - - muscular dystrophy, Duchenne (DMD) - Bulgaria:Sofia - Bulgaria - M unknown - - 1 - -
+/? _0-Dp427m_48i c.(?_-244)_7098+?del
    + c.0		 - r.0? p.0? DMD_e1e48 - germline (inherited) - DNA Southern - - muscular dystrophy, Duchenne (DMD) - :Sao Paulo - Brazil - M unknown - - 1 - -
+/? _0-Dp427m_48i c.(?_-244)_7200+?del
    + c.0		 - r.0? p.0? DMD_e1e48 del incl. promotor germline (inherited) Tuffery-Giraud 2009, UMD-3015 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD - France - M unknown - - 1 - NO
+/? _0-Dp427m_51i c.(?_-244)_7542+?del
    + c.0		 - r.0? p.0? DMD_e1e51 - germline (inherited) Tuffery-Giraud 2009, UMD-1484 DNA MLPA - - muscular dystrophy, Duchenne (DMD) - JdD - France - M unknown - - 1 - NO
+/? _0-Dp427m_55i c.(?_-244)_8217+?del
    + c.0		 - r.0? p.0? DMD_e1e55 - germline (inherited) - DNA MLPA, PCR - - muscular dystrophy, Duchenne (DMD) - Italy:Ferrara - Italy - M unknown - - 1 - IHC no DMD
+/? _0-Dp427m_55i c.(?_-244)_8217+?del
    + c.0		 - r.0? p.? DMD_e1e55 - germline (inherited) Bovolenta, in press DNA MLPA, PCR - - dystrophy, muscular, Duchenne (DMD) - Italy:Ferrara - Italy - M unknown - - 1 - IHC no DMD
+/? _0-Dp427m_8i c.(?_-244)_831+?del
    + c.0		 - r.0? p.0? DMD_e1e8 - germline (inherited) Tuffery-Giraud 2009, UMD-2415 DNA MLPA - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - France - M unknown - - 1 - NO
+/? _0-Dp427m_60i c.(?_-244)_9084+?del
    + c.0		 - r.0? p.0? DMD_e1e60 - germline (inherited) Covone DNA Southern, PCR - - (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD)) - JdD - Italy - M unknown - - 1 - -
+/? _0-Dp427m_2i c.(?_-244)_93+?del
    + c.0		 - r.0? p.0? DMD_e1e2 - germline (inherited) Covone DNA Southern, PCR - - muscular dystrophy, Duchenne (DMD) - JdD - Italy - M unknown - - 1 - -
+/? _0-Dp427m_2i c.(?_-244)_93+?del
    + c.0		 - r.0? p.0? DMD_e1e2 - germline (inherited) Gilgenkrantz DNA Southern - - muscular dystrophy, Duchenne (DMD) - JdD - France - M unknown - - 1 - -
+/? _0-Dp427m_2i c.(?_-244)_93+?del
    + c.0		 - r.0? p.0? DMD_e1e2 - germline (inherited) Baumbach DNA Southern - - muscular dystrophy, Duchenne (DMD) - JdD - United States - M unknown - - 1 - -
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Legend: [ DMD_d full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant affecting function (pathogenicity), in the format Reported/Concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown. Exon: number of exon/intron containing variant DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change DMD DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site Phenotype: phenotype of the individual Phenotype additional: detailed phenotypic features of the individual Reference: publication describing the phenotype of the patient Remarks: Remarks Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # reported: Number of times this case has been reported CK level: CK level Protein data: Protein data

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