The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I.
Brockington
Martin
M
Blake
Derek J
DJ
Brown
Susan C
SC
Muntoni
Francesco
F
D016695:Glycosyltransferases / Q000235:genetics*; D006801:Humans; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics*; D009154:Mutation; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics*
D011506:Proteins; D016695:Glycosyltransferases; C443107:FKRP protein, human; D010430:Pentosyltransferases