Ontology highlight
ABSTRACT:
SUBMITTER: Li J
PROVIDER: S-EPMC4535863 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Li Jinxin J Huang Qinghai Q Ge Liang L Xu Jing J Shi Xingjuan X Xie Wei W Liu Xiang X Liu Xiangdong X
Genomics data 20150318
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) gene. This study intended to systematically identify the causative genetic variations of a Chinese Han PC family. Seven members of this PC family, including four patients and three healthy controls, we ...[more]