Gene: [13q12/SGCG] sarcoglycan, gamma (dystrophin associated glycoprotein, 35kD); limb girdle muscular dystrophy 2C (autosomal recessive); Duchenne-like muscular dystrophy, autosomal recessive 1; [DAGA4 LGMD2C ]


REF

LIN,LOC "Azibi K &: Hum Mol Genet, 2, 1423-1428, 1993
LIN,LOC "Azibi K &: CCG, 58, (HGM11), 1907, 1991
LIN,LOC "Ben Othmane K &: AJHG, 57, 732-734, 1995
LIN,LOC "Ben Othmane K &: Nature Genet, 2, 315-317, 1992
LIN,LOC,HET "El Kerch F &: J Med Genet, 31, 342-343, 1994
PAT "Jung D &: FEBS Lett, 381, 15-20, 1996
LOC "Loeb D &: AJHG, 53, N5, 1038, 1993
LOC "McNally EM &: AJHG, 59, 1040-1047, 1996a
LOC "McNally EM &: Hum Mol Genet, 5, 1841-1847, 1996b
MUT "Noguchi S &: Science, 270, 819-821, 1995
LIN,LOC,HET "Passos-Bueno MR &: Hum Mol Genet, 2, 1945-1947, 1993
LOC "Piccolo F &: Hum Mol Genet, 5, 2019-2022, 1996
POP "Stec I &: J Med Genet, 32, 930-933, 1995

KEY

mem, myo

CLA

coding, basic

LOC

13 q12

MIM

MIM: 253700

SYN

DAGA4 LGMD2C

Смотрите также:

  • 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