https://scholars.lib.ntu.edu.tw/handle/123456789/189512
標題: | Paralysis Periodica Paramyotonica Caused by Scn4a Arg1448cys Mutation | 作者: | HSU, WEI-CHIH LAI, LING-PING |
關鍵字: | exercise test;hyperkalemic periodic paralysis;paralysis periodica paramyotonica;paramyotonia congenita;sodium channelopathy | 公開日期: | 2006 | 卷: | v.105 | 期: | n.6 | 起(迄)頁: | 503-507 | 來源出版物: | JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION | 摘要: | 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 this family. The affected family members exhibited marked shifts in compound muscle action potential amplitudes on exercise test, and muscle weakness could be induced by potassium loading and cold exposure. This case demonstrates that SCN4A Arg1448Cys can produce paralysis periodica paramyotonica. Other genetic or environmental factors may modulate the manifestation of SCN4A Arg1448Cys mutation. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/93103 |
顯示於: | 醫學系 |
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