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Article

Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.

Brain & development - 1 Oct 2015

Yang Haipo, Kobayashi Kazuhiro, Wang Shuo, Jiao Hui, Xiao Jiangxi, Toda Tatsushi, Wu Xiru, Xiong Hui

Abstract excerpt

PURPOSE: Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3' untranslated region. METHODS: Immunofluorescence staining was undertaken on muscle biopsies from three patients using alpha...

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Identifiers

PMID: 25814170
DOI: 10.1016/j.braindev.2015.02.010

Genes

FKTN

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