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Article

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.

Neuromuscular disorders : NMD - 1 Mar 2009

Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero N B, Carlier R Y, Estournet B, Guicheney P, Seta N

Abstract excerpt

Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene (FKTN). Outside Japan, FKTN mutations have only been reported in a few patients with a wide spectrum of phenotypes from Walker-Warburg syndrome to limb-girdle muscular dystrophy (LGMD2M). We studied four new Caucasian patients from three unrelated families. All showed raised serum CK initially...

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Source

Identifiers

PMID: 19179078
DOI: 10.1016/j.nmd.2008.12.005

Genes

FKTN
FKRP

Provenance

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