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Article

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis.

Neuromuscular disorders : NMD - 1 Dec 2015

Ke Qing, He Fangping, Lu Lingping, Yu Ping, Jiang Yajian, Weng Chen, Huang Hui, Yi Xin, Qi Ming

Abstract excerpt

Primary hypokalemic periodic paralysis is an autosomal dominant skeletal muscle channelopathy. In the present study, we investigated the genotype and phenotype of a Chinese hypokalemic periodic paralysis family. We used whole-exome next-generation sequencing to identify a mutation in the calcium channel, voltage-dependent, L type, alpha subunit gene (CACNA1S), R900S, which is a rare mutation associated with...

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PMID: 26433613
DOI: 10.1016/j.nmd.2015.09.006

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