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Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V

Periodic paralysis (PP) is an uncommon inherited disorder causing recurrent episodes of muscle weakness, with an incidence of 0.001%. Normokalemic periodic paralysis (NormoKPP) as the rarest subtype of PP contains both familial and sporadic. Familial NormoKPP caused by the p.M1592V mutation of the s...

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Detalles Bibliográficos
Autores principales: Fu, Chao, Wang, Zhenyu, Wang, Libo, Li, Jia, Sang, Qiuling, Chen, Jiajun, Qi, Ling, Jin, Hui, Liu, Xiaoyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999725/
https://www.ncbi.nlm.nih.gov/pubmed/29930533
http://dx.doi.org/10.3389/fneur.2018.00430