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J-GLOBAL ID：201602224365834789   Reference number：16A1380134

Hypertrophic Cardiomyopathy Accompanied by Spinocerebellar Atrophy With a Novel Mutation in Troponin I Gene

新規トロポニンI遺伝子突然変異を伴う脊髄小脳萎縮症合併肥大型心筋症

Author (10)： Kawai Hideki (Department of Cardiology, Fujita Health University) ,  Morimoto Shin-ichiro (Department of Cardiology, Fujita Health University) ,  Takakuwa Yoko (Department of Cardiology, Fujita Health University) ,  Ueda Akihiro (Department of Neurology, Fujita Health University) ,  Inada Ken-ichi (Department of Pathology, Fujita Health University) ,  Sarai Masayoshi (Department of Cardiology, Fujita Health University) ,  Arimura Takuro (Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University) ,  Mutoh Tatsuro (Department of Neurology, Fujita Health University) ,  Kimura Akinori (Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University) ,  Ozaki Yukio (Department of Cardiology, Fujita Health University)
Material： International Heart Journal  (Int Heart J)
Volume： 57  Issue： 4  Page： 507-510(J-STAGE)  Publication year： 2016 
JST Material Number： Z0752A  ISSN： 1349-2365  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *hypertrophic cardiomyopathy ,...
Semi thesaurus term： *Troponin I

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Author keywords (1)： Genetic testing

JST classification (2)： Cardiovascular system diseases  (GJ03000C) ,  Nervous system diseases  (GN03000O)

Reference (11)：

• 1. Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet 2013; 381: 242-55. (Review)
• 2. Otsuka H, Arimura T, Abe T, et al. Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. Circ J 2012; 76: 453-61.
• 3. Yoshinaga M, Yoshikawa D, Ishii H, et al. Clinical characteristics and long-term outcomes of hypertrophic cardiomyopathy. Int Heart J 2015; 56: 415-20.
• 4. Iio C, Ogimoto A, Nagai T, et al. Association between genetic variation in the SCN10A gene and cardiac conduction abnormalities in patients with hypertrophic cardiomyopathy. Int Heart J 2015; 56: 421-7.
• 5. Schulz JB, Boesch S, Bürk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol 2009; 5: 222-34. (Review)

Terms in the title (5)： トロポニンI ,  脊髄 ,  小脳萎縮症 ,  合併 ,  肥大型心筋症