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Neuromuscular disorders - gene, protein and disease table

(last modified February 10, 2006)

General description diseases

Gene, protein and disease table

Protein Synomym Gene
symbol		 Location Disease MIM nr. Reference animal
dystrophin DMD Xp21.2 DMD, BMD,
XLDC		 310200 Monaco, Koenig mouse, dog, cat
alpha-dystrobrevin 87 kDa,
A0,
DRP3		 DTNA 18q12.1-12.2 - 601239 Sadoulet-Puccio
beta-dystrobrevin DTNB 2p23-p22 - 602415 Blake
utrophin DMDL,
DRP1		 UTRN 6q24 - 128240 Pearce knock-out
Deconinck
dystrophin related protein 2 DRP2 DRP2 Xq22 - 300052 Roberts
dystroglycana alpha- 156DAG,
cranin		 DAG1 3p21 - 128239 Ibraghimov-Beskrovnaya,

Smalheiser & Schwartz		 knock-out
Williamson
beta- 43DAG,
A3a,
cranin
myotilin TTID 5q22.3-q31.3 LGMD-1A 159000 Hauser
lamin A/C LMNA 1q11-q21 LGMD-1B 159001 Muchir knock-out: Sullivan et al. (1999), De Sandre-Giovannoli (2002), Leu530Pro: Mounkes (2002)
1q21.2 EMD2 (AD-EMD),
AR-EMD		 181350,
604949		 Bonne,
Raffaele di Barletta
CMD1A 115200 Fatkin
PLD 151660 Shackleton
1q21.2-q21.3 CMT2 (AR-CMT2,
CMT2A),		 De Sandre-Giovannoli
1q21.2-q21.3 CMT2B1 ? 605588 Bouhouche, De Sandre-Giovannoli
calpain-3 p94 CAPN3 15q15.1-q21.1 LGMD-2A 253600,
114240		 Richard knock-out Kramerova (2004)
caveolin-3 CAV3 3p25 LGMD-1C
hyperCKemia
RMD		 601253
123320
606072 		Minetti / McNally
Carbone
Betz 		knock-out Hagiwara / Galbiati, Pro105Leu - Sunada
unknown 7q LGMD-1D 603511 Speer
dysferlin DYSF 2p13.1-p13.3 LGMD-2B,
MM (Miyoshi)		 253601 Liu, Bashir SJL mouse (Bittner) / KO mouse (Bansal)
emerin EMD Xq27.3-q28 EDMD
(X-EMD)		 310300,
310200 		Bione
 

 

sarcoglycan

 

 

 

 alpha

 

 50DAG,
A2, adhalin, SL50		 SGCA 17q12-q21.33 ARMD, LGMD-2D 600119 Roberds knock-out
Duclos
beta 43DAG,
A3b		 SGCB 4q12 ARMD, LGMD-2E 600900 Bönnemann, Lim knock-out
Araishi
gamma 35DAG,
A4		 SGCG 13q12-q13 SCARMD, LGMD-2C 253700 Noguchi knock-out
Hack
delta 35DAG,
A4		 SGCD 5q33-q34 LGMD-2F 601287,
601411		 Nigro, Nigro BIO14.6 hamster Nigro, knock-out Coral-Vazquez
epsilon SGCE 7q21-q22 MDS, DYT11 159900,  604149 McNally
zeta SGCZ - Wheeler
telethonin TCAP 17q11-q12 LGMD-2G 601954 Moreira
titin TTN 2q31 LGMD-2J, TMD, CMH-9, CMD-1G  608807, 600334, 192600, 604145 Hackman,
Satoh,
Gerull		 mdm mouse (Garvey), zebra fish
tripartite motif-containing 32 TRIM32 9q31-q33 LGMD-2H 254110 Weiler
fukutin FCMD 9q31 FCMD (Fukuyama) 253800 Kobayashi
fukutin-related protein FKRP 19q13.33 LGMD-2I,  MDC1C 606596 Driss, Brockington
sarcospan 25DAP,
A5, KRAG		 KRAG 12p11.2 - Crosbie
unknown - 1q42 MDC1B 604801
syntrophin alpha 59DAP, A1, SNT1 SNTA1 20q11.2 - 601017 Ahn Kameya
beta-1 59DAP, A1, SNT2 SNTB1 8q23-q24 - 600026 Ahn
beta-2 59DAP, A1, SNT3 SNTB2 16q22-q23 - 601018, 600027 Ahn
gamma-1 SNT4 SNTG1 8q11-q12 -
gamma-2 SNT5 SNTG2 2p25 -
laminin alpha-2 merosin LAMA2 6q22-q23 MDC1A (CMD) 156225 Helbling-Leclerc mouse: dy, dy2J  en KO's (dy3K , dyW)

Legend:
Protein: name of protein. Synonym: other names which have been used to describe the same protein. Gene symbol: official abbreviation for gene/protein; with links to GDB, GenAtlas, GeneCards and OMIM. Location: chromosomal localization of the human gene. Disease: known human disease caused by mutations in this protein; ARMD = autosomal recessive muscular dystrophy, BMD = Becker muscular dystrophy, DMD = Duchenne muscular dystrophy, FCMD = Fukuyama congenital muscular dystrophy, hyperCKemia = idiopathic hyperCKemia, LGMD = limb-girdle muscular dystrophy, MDC = muscular dystrophy congenital, MM = Miyoshi myopathy, RMD = autosomal dominant Rippling Muscle Disease, SCARMD = severe childhood autosomal recessive muscular dystrophy, XLDC = X-linked dilated cardiomyopathy. Reference: publication describing the protein. Animal: animal phenotype caused by mutation in this gene.
    aalpha- and beta dystroglycan are encoded by one gene.

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