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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785580/
https://www.ncbi.nlm.nih.gov/pubmed/27081534
http://dx.doi.org/10.1038/hgv.2015.22

Ejemplares similares

Ejemplares similares