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Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient

✍ Scribed by Hui Xiong; Shuo Wang; Kazuhiro Kobayashi; Yuwu Jiang; Jingmin Wang; Xingzhi Chang; Yun Yuan; Jieyu Liu; Tatsushi Toda; Yukio Fukuyama; Xiru Wu

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 226 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33057

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## Abstract Fukuyama‐type congenital muscular dystrophy (FCMD), one of the most common autosomal recessive disorders in Japan, is characterized by congenital muscular dystrophy associated with brain malformation due to a defect in neuronal migration. Previously, we identified the gene responsible f