https://scholars.lib.ntu.edu.tw/handle/123456789/536704
標題: | Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation | 作者: | Hsu W.-C. Huang Y.-C. Wang C.-W. Hsueh C.-H. LING-PING LAI Yeh J.-H. |
關鍵字: | Exercise test; Hyperkalemic periodic paralysis; Paralysis periodica paramyotonica; Paramyotonia congenita; Sodium channelopathy | 公開日期: | 2006 | 出版社: | Scientific Communications International Ltd | 卷: | 105 | 期: | 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. ?2006 Elsevier & Formosan Medical Association. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-33745617091&doi=10.1016%2fS0929-6646%2809%2960191-1&partnerID=40&md5=85da162fddd8f149a44146c8db8187d7 https://scholars.lib.ntu.edu.tw/handle/123456789/536704 |
ISSN: | 0929-6646 | DOI: | 10.1016/S0929-6646(09)60191-1 | SDG/關鍵字: | arginine; cysteine; sodium channel; adult; article; case report; clinical feature; cold exposure; environmental factor; exercise test; family history; gene mutation; gene sequence; genetic analysis; human; hyperkalemia; male; medical examination; muscle action potential; muscle weakness; mutational analysis; nucleotide sequence; paralysis periodica paramyotonia; phenotype; polymerase chain reaction; sequence analysis; Thomsen disease |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。