Gene: [0Xp212/DMD] dystrophin; muscular dystrophy, Duchenne and Becker types; cardiomyopathy, dilated, X-linked (MIM:302045);


FAG

About dystrophin related proteins see GEM:06q24/DRP1 and GEM:0Xq22/DRP2.

REF

EXP,PEP "Bar &: Biochem J, 272, N2, 557-560, 1990
MUT,MOL,CYG "Hu XY &: AJHG, 44, N6, 855-863, 1989
EXP,CYG,MOL "Hurko &: AJHG, 44, N6, 820-826, 1989
MUT,ASS "Muntoni F &: New Engl J Med, 329, 921-925, 1993
LIN,PAT "Towbin JA &: Circulation, 87, 1854-1865, 1993
MUT,PHE "Yoshioka &: Clin Genet, 38, N6, 434-440, 1990

SWI

SWISSPROT: P11532

KEY

neu, cysk, myo, card

CLA

coding, basic

LOC

0X p21.2

MIM

MIM: 310200

Смотрите также:

  • Gene: [0X^/ACADX] acyl-CoA dehydrogenase X, multiple deficiency; glutaric aciduria II, neonatal form (GA IIA);
  • DMD ген дистрофина