Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

M. Brockington,D. Blake,P. Prandini,Susan C. Brown,S. Torelli,S. Torelli,Matthew A. Benson,C. Ponting,B. Estournet,N. Romero,E. Mercuri,T. Voit,C. Sewry,C. Sewry,P. Guicheney,F. Muntoni

Published 2001 in American Journal of Human Genetics

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