A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy

Laing distal myopathy (LDM) is an autosomal dominant myopathy that is caused by mutations in the slow/beta cardiac myosin heavy-chain (MYH7) gene. It has been recently reported that LDM presents with a wide range of clinical manifestations. We herein report a large Chinese family with autosomal domi...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Oda, Tetsuya, Xiong, Hui, Kobayashi, Kazuhiro, Wang, Shuo, Satake, Wataru, Jiao, Hui, Yang, Yanling, Cha, Pei-Chieng, Hayashi, Yukiko K, Nishino, Ichizo, Suzuki, Yutaka, Sugano, Sumio, Wu, Xiru, Toda, Tatsushi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785580/
https://ncbi.nlm.nih.gov/pubmed/27081534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.22
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