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

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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Bibliographic Details
Main Authors: Jiejing Shi, Qianqian Qu, Haiyan Liu, Wenhao Cui, Yan Zhang, Haidong Lv, Zuneng Lu
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Neurology
Subjects:
normokalemic periodic paralysis
SCN4A mutation
muscle imaging
muscle biopsy
pedigree
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.01138/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2019.01138/full

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