Article
A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.
Journal of molecular neuroscience : MN - 1 Feb 2012
Li Fei-Feng, Li Qian-Qian, Tan Zhen-Xuan, Zhang Si-Yao, Liu Ji, Zhao Er-ying, Yu Gui-Chun, Zhou Jin, Zhang Li-Ming, Liu Shu-Lin
Abstract excerpt
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. Several mutations in the skeletal muscle calcium channel α-subunit gene CACNA1S have been documented to be causative for HypoPP, but mutations in other genes have also been implicated in HypoPP. To further reveal the genetic causes...
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