Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) g...

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Detalhes bibliográficos
Publicado no:Genom Data
Main Authors: Li, Jinxin, Huang, Qinghai, Ge, Liang, Xu, Jing, Shi, Xingjuan, Xie, Wei, Liu, Xiang, Liu, Xiangdong
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4535863/
https://ncbi.nlm.nih.gov/pubmed/26484179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gdata.2015.03.002
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