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<i>FKRP</i> gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

25 Mar 2003

Abstract excerpt

BACKGROUND: Congenital muscular dystrophies (CMD) are autosomal recessive disorders that present within the first 6 months of life with hypotonia and a dystrophic muscle biopsy. CNS involvement is present in some forms. The fukutin-related protein gene (FKRP) is mutated in a severe form of CMD (MDC1C) and a milder limb girdle dystrophy (LGMD2I). Both forms have secondary deficiencies of laminin alpha2 and...

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PMID: 12654965
DOI: 10.1212/01.wnl.0000052996.14099.dc

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<i>FKRP</i> gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cystsPMID 12654965Read ↗

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.Semantic proximity Read ↗

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