Article
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.
American journal of human genetics - 1 Dec 2001
Brockington M, Blake D J, Prandini P, Brown S C, Torelli S, Benson M A, Ponting C P, Estournet B, Romero N B, Mercuri E, Voit T, Sewry C A, Guicheney P, Muntoni F
Abstract excerpt
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes on skeletal-muscle biopsy. Structural brain defects, with or without mental retardation, are additional features of several CMD syndromes. Approximately 40% of patients with CMD have a primary deficiency (MDC1A) of the laminin alpha2...
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