Article
Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing.
The Journal of international medical research - 1 Sept 2020
Tan XinYu, Hu SongNian, Xie Zongyu, Mei Hailiang, Liu Yang, Yin Liang, Shi Peng, Chen Qiming, Sang Daoqian
Abstract excerpt
OBJECTIVES: Normokalemic periodic paralysis (NormoKPP) of skeletal muscle is an autosomal dominant disorder caused by mutations in the gene encoding voltage-gated sodium channel protein type 4 subunit alpha (SCN4A), which leads to ion channel dysfunction. Little is known about the relationship between genotype and the clinical symptoms of NormoKPP. The present study aimed to evaluate the genetic variation in a...
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