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 recessive); Duchenne-like muscular dystrophy, autosomal recessive 2; [ADL LGMD2D ]
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FAG |
Four members of sarcoglucan family (components dystrophin-glycoprotein complex) are identified: alpha-sarcoglycan, beta-sarcoglycan (GEM:04q12/SGCB), gamma-sarcoglycan (GEM:13q12/SGCG), and delta-sarcoglycan (GEM:05q33/SGCD)." |
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REF |
CLO,SEQ "Allamand V &: Hum Mol Genet, 3, 2269, 1994 MUT "Duggan DJ &: New Engl J Med, 336, 618-624, 1997 FUN,PAT "Fadic R &: New Engl J Med, 334, 362-366, 1996 FOG "Hayashi YK &: Neurology, 45, 551-554, 1995 MUT "Kawai H &: J Clin Invest, 96, 1202-1207, 1995 MUT "Ljunggren A &: Ann Neurol, 38, 367-372, 1995 MUT "Matsumura K &: Nature, 359, 320-322, 1992 LOC "McNally EM &: PNAS, 91, 9690-9694, 1994 MUT "Passos Bueno MR &: Hum Mol Genet, 4, 1163-1167, 1995 HET,LIN "Passos-Bueno MR &: Hum Mol Genet, 2, 1945-1947, 1993 LOC "Piccolo F &: Nature Genet, 10, 243-245, 1995 CLO,SEQ,LOC,MUT "Roberds SL &: Cell, 78, 625-633, 1994 CLO,SEQ,STR "Roberds SL &: JBC, 268, 23739-23742, 1993 HET "Romero NB &: CR Acad Sci III, 317, 70-76, 1994 IDN "Zatz M &: Am J Med Genet, 32, 407-410, 1989 |
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KEY |
mem, myo |
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CLA |
coding, basic |
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LOC |
17 q21 |
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MIM |
MIM: 600119 |
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SYN |
ADL LGMD2D |
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