Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation

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 Na(v)1.4. The patients with concomitant mutations in both ge...

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Detalles Bibliográficos
Autores principales: Zhao, Chenyu, Tang, DongFang, Huang, Hui, Tang, Haiyan, Yang, Yuan, Yang, Min, Luo, Yingying, Tao, Huai, Tang, Jianguang, Zhou, Xi, Shi, Xiaoliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7224471/
https://www.ncbi.nlm.nih.gov/pubmed/32407401
http://dx.doi.org/10.1371/journal.pone.0233017

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