Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing

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 betwe...

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Detalles Bibliográficos
Autores principales: Tan, XinYu, Hu, SongNian, Xie, Zongyu, Mei, Hailiang, Liu, Yang, Yin, Liang, Shi, Peng, Chen, Qiming, Sang, Daoqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Pre-Clinical Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7517994/
https://www.ncbi.nlm.nih.gov/pubmed/32962503
http://dx.doi.org/10.1177/0300060520953643

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