Gene: [04q12/SGCB] sarcoglycan, beta (dystrophin-associated glycoprotein, 43kD); limb girdle muscular dystrophy 2E (autosomal recessive); [SGC LGMD2E ]
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REF |
HET "Allamand V &: Hum Mol Genet, 4, 459-463, 1995 CLO,SEQ,GEN,MUT "Bonnemann CG &: Hum Mol Genet, 5, 1953-1961, 1996 CLO,SEQ,STR,MUT,LOC "Bonnemann CG &: Nature Genet, 11, N4, 266-273, 1995 CLO,SEQ,STR,MUT,LOC "Lim LE &: Nature Genet, 11, 257-265, 1995 IDN "Yoshida M &: J Biochem, 108, N5, 748-752, 1990 |
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KEY |
mem, myo |
|
CLA |
coding, basic |
|
LOC |
04 q12 |
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MIM |
MIM: 600900 |
|
SYN |
SGC LGMD2E |
Ссылки:
- Gene: [17q21/SGCA] sarcoglycan, alpha (dystrophin-associated glycoprotein, 50kD); adhalin (dystrophin-associated glycoprotein, 50kD); dystroglycan 2 (dystrophin-associated glycoprotein, 50kD); limb girdle muscular dystrophy 2D (autosomal re
- Gene: [15q15/CAPN3] calpain, large polypeptide L3 (catalytic); calcium-activated neutral proteinase (protein p94); limb girdle muscular dystrophy 2A (autosomal recessive; MIM:253600); Leyden-Moebius muscular dystrophy (pelvofemoral; MIM:253
