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Article

Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jun 2006

Hsu Wei-Chih, Huang Yung-Chuan, Wang Chung-Wei, Hsueh Chia-Hsiang, Lai Ling-Ping, Yeh Jiann-Horng

Abstract excerpt

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. His father and a younger brother also exhibited a similar phenotype. A SCN4A Arg1448Cys mutation was detected in...

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PMID: 16801039
DOI: 10.1016/S0929-6646(09)60191-1

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