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A Novel Mutation in the SCN4A Gene in a Japanese Family with Paramyotonia Congenita
https://asahikawa-med.repo.nii.ac.jp/records/5137
https://asahikawa-med.repo.nii.ac.jp/records/51377551141f-f427-40e1-b8b4-785939a5d372
名前 / ファイル | ライセンス | アクション |
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6022.pdf (357.3 kB)
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Item type | 学術雑誌論文 / Journal Article_02(1) | |||||
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公開日 | 2015-03-17 | |||||
タイトル | ||||||
タイトル | A Novel Mutation in the SCN4A Gene in a Japanese Family with Paramyotonia Congenita | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
キーワード | Paramyotoniacongenita | |||||
キーワード | ||||||
主題Scheme | Other | |||||
キーワード | Sodium channel | |||||
キーワード | ||||||
主題Scheme | Other | |||||
キーワード | Muscle | |||||
キーワード | ||||||
主題Scheme | Other | |||||
キーワード | Mutation | |||||
資源タイプ | ||||||
資源タイプ | journal article | |||||
著者 |
高橋, 悟
× 高橋, 悟× 山本, 志保× 田中, 亮介× 岡山, 亜貴恵× 荒木, 章子× 梶野, 浩樹× 東, 寛 |
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著者 ローマ字 | ||||||
Takahashi, Satoru | ||||||
著者 ローマ字 | ||||||
Yamamoto, Shiho | ||||||
著者 ローマ字 | ||||||
Tanaka, Ryosuke | ||||||
著者 ローマ字 | ||||||
Okayama, Akie | ||||||
著者 ローマ字 | ||||||
Araki, Akiko | ||||||
著者 ローマ字 | ||||||
Kajino, Hiroki | ||||||
著者 ローマ字 | ||||||
Azuma, Hiroshi | ||||||
書誌情報 |
Journal of Neurology & Neurophysiology 巻 5, 号 5, p. 1-3, 発行日 2014-09-01 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 2155-9562 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.4172/2155-9562.1000233 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Paramyotoniacongenita is an autosomal-dominant muscle disease caused by missense mutations in SCN4A, the gene enconding the alpha subunit of skeletal muscle sodium channel. It is clinically characterized by paradoxical myotonia, an attack of muscle stiffness that is aggravated by repeated activity, as well by cold-induced muscle stiffness. We describe the clinical and genetic features of a Japanese family with Paramyotoniacongenita. Five members of this family (four generations) were affected. Treatment with mexiletine, an antiarrhythmic drug that inhibits inward sodium current, relieved their symptoms. We identified a novel SCN4A mutation (c.3470T>A, p.Ile1157Asn) in the affected individuals. This mutation is located on the cytoplasmic loop connecting the trans-membrane segments S4 and S5 of domain 3 of the sodium channel, the site for docking with its inactivation particle. This mutation may cause the defective inactivation of the channel. Our observation provides a new insight into the genotype-phenotype correlation in sodium channel opathies. | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
資源タイプ | text | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
フォーマット | ||||||
内容記述タイプ | Other | |||||
内容記述 | application/pdf | |||||
ID(XooNIps) | ||||||
20150317 | ||||||
閲覧数(XooNIps) | ||||||
938 | ||||||
ダウンロード数(XooNIps) | ||||||
1138 |