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 ]

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)."

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

KEY

mem, myo

CLA

coding, basic

LOC

17 q21

MIM

MIM: 600119

SYN

ADL LGMD2D

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