Article
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.
PloS one - 1 Jan 2020
Zhao Chenyu, Tang DongFang, Huang Hui, Tang Haiyan, Yang Yuan, Yang Min, Luo Yingying, Tao Huai, Tang Jianguang, Zhou Xi, Shi Xiaoliu
Abstract excerpt
Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4. The patients with concomitant mutations in both genes manifested different unique symptoms from mutations in these genes separately. Here, we describe a patient with...
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