A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex

Heather MacLeod, Peter Pytel, Robert Wollmann, Ewa Chelmicka-Schorr, Kenneth Silver, Rebecca Brown Anderson, Darrel Waggoner, Elizabeth M McNally
Neuromuscular Disorders: NMD 2007, 17 (4): 285-9
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 congenital muscular dystrophy who each have the identical, novel 1387A>G, N463D mutation. Muscle biopsies from these children show a reduction of alpha-dystroglycan and also show reduction of beta-dystroglycan, and alpha-, beta-, and gamma-sarcoglycan, suggesting that FKRP mutations can perturb membrane associated proteins beyond dystroglycan.

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