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Paralysis Periodica Paramyotonica Caused by SCN4A Arg1448Cys Mutation

Paralysis periodica paramyotonica is an overlapping disease that shares the features of paramyotonia characteristic of paramyotonia congenita (PC) and periodic paralysis characteristic of hyperkalemic periodic paralysis. We report the case of a 23-year-old man with paralysis periodica paramyotonica....

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Autores principales: Wei-Chih Hsu, Yung-Chuan Huang, Chung-Wei Wang, Chia-Hsiang Hsueh, Ling-Ping Lai, Jiann-Horng Yeh
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2006-01-01
Colección:Journal of the Formosan Medical Association
Materias:
exercise test
hyperkalemic periodic paralysis
paralysis periodica paramyotonica
paramyotonia congenita
sodium channelopathy
Acceso en línea:http://www.sciencedirect.com/science/article/pii/S0929664609601911
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