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

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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Bibliographic Details
Main Authors:	Jinxin Li, Qinghai Huang, Liang Ge, Jing Xu, Xingjuan Shi, Wei Xie, Xiang Liu, Xiangdong Liu
Format:	Article
Language:	English
Published:	Elsevier 2015-06-01
Series:	Genomics Data
Subjects:	Paramyotonia congenita (PC) Neuromuscular disorder Sodium channel Voltage-gated type IV alpha subunit (SCN4A) Whole exome sequencing (WES)
Online Access:	http://www.sciencedirect.com/science/article/pii/S2213596015000197

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