SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review

Objective: To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of normokalemic periodic paralysis (NormoKPP) caused by mutation of SCN4A gene p.R675Q. Methods: The clinical data, skeletal muscle imaging, pathological data, and gene test results of a...

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Detalles Bibliográficos
Autores principales: Shi, Jiejing, Qu, Qianqian, Liu, Haiyan, Cui, Wenhao, Zhang, Yan, Lv, Haidong, Lu, Zuneng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824318/
https://www.ncbi.nlm.nih.gov/pubmed/31708864
http://dx.doi.org/10.3389/fneur.2019.01138

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824318/
https://www.ncbi.nlm.nih.gov/pubmed/31708864
http://dx.doi.org/10.3389/fneur.2019.01138

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