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[Fukuyama-type congenital muscular dystrophy].

Rinsho shinkeigaku = Clinical neurology - 1 Dec 2000

Toda T

Abstract excerpt

Fukuyama-type congenital muscular dystrophy (FCMD) is characterized by congenital muscular dystrophy in combination with cortical dysgenesis and ocular abnormality. We identified on chromosome 9 q31 the gene for FCMD, which encodes a novel 461-amino-acid protein (fukutin). Most FCMD-bearing chromosomes have been derived from a single ancestral founder, whose mutation consisted of a 3-kb retrotransposal insertion...

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PMID: 11464484

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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