カイダ　ケンイチ   KAIDA Kenichi   海田　賢一    所属   埼玉医科大学  医学部 総合医療センター　脳神経内科    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	A novel mutation in the gene for the adult skeletal muscle sodium channel α-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg
掲載誌名	正式名：Archives of Neurology ISSNコード：00039942
巻・号・頁	56(6),692-696頁
著者・共著者	Ryogen Sasaki,Hiroki Takano,Keiko Kamakura,Kenichi Kaida,Akira Hirata,Masaaki Saito,Hajime Tanaka,Shigeki Kuzuhara,Shoji Tsuji
発行年月	1999/06
概要	Background: Paramyotonia congenita (PMC) of von Eulenburg is an autosomal dominant muscular disease characterized by exercise- and cold- induced myotonia and weakness. To date, 18 missense mutations in the adult skeletal muscle sodium channel α-subunit (SCN4A) gene have been identified to cause a spectrum of muscular diseases, including PMC of yon Eulenburg, PMC without cold paralysis, potassium-aggravating myotonia, and hyperkalemic periodic paralysis. However, no obvious correlations, can be made between the location or nature of amino acid substitutions in SCN4A and its clinical phenotypes. Objective: To describe clinical and genetic features of a family with PMC of von Eulenburg. Results: A Japanese family with cold-induced myotonia and weakness was diagnosed as having PMC of von Eulenburg. This phenotype was identified to be caused by a novel mutation that substituted a glutamic acid residue for a highly conserved glycine residue in the fourth transmembrane segment (S4) of domain IV. This predicted a decrease in positive charge specific for the S4. Conclusion: In addition to the G1456E identified in this study, 4 mutations that cause a decrease in positive charge in the S4/D4
DOI	10.1001/archneur.56.6.692
PMID	10369308