Article
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
Neuromuscular disorders : NMD - 1 Apr 2007
MacLeod Heather, Pytel Peter, Wollmann Robert, Chelmicka-Schorr Ewa, Silver Kenneth, Anderson Rebecca Brown, Waggoner Darrel, McNally Elizabeth M
Abstract excerpt
Mutations in the gene encoding fukutin related protein (FKRP) produce a spectrum of disease including congenital muscular dystrophy and limb girdle muscular dystrophy. FKRP is one member of a class of molecules thought to be glycosyltransferases that mediate O-linked glycosylation. The primary target of these glycosyltransferases is thought to be dystroglycan. We now report two unrelated Mexican children with...
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