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Article

Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.

Brain & development - 1 Jan 2008

Yoshioka Mieko, Higuchi Yoshihisa, Fujii Tatsuya, Aiba Hideo, Toda Tatsushi

Abstract excerpt

Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder prevalent in Japan, characterized by cobblestone lissencephaly and dystrophic changes in skeletal muscle, resulting in mental retardation, epilepsy and motor impairment. FCMD patients in Japan carry at least one copy of an ancestral founder mutation, a 3 kb insertion in a 3'-untranslated region, that results in a reduction in...

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PMID: 17597323
DOI: 10.1016/j.braindev.2007.05.012

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

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