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J-GLOBAL ID：201702281058241071   Reference number：17A1233670

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants

GDAP1変異に起因するシャルコー・マリー・トゥース病の日本人患者の臨床的および変異スペクトル【Powered by NICT】

Author (22)： Yoshimura A. (Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Yuan J.-H. (Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Hashiguchi A. (Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Hiramatsu Y. (Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Ando M. (Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Higuchi Y. (Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Nakamura T. (Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Okamoto Y. (Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Matsumura K. (Department of Neurology, Teikyo University, Tokyo, Japan) ,  Hamano T. (Department of Neurology, Kansai Electric Power Hospital, Osaka, Japan) ,  Sawaura N. (Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan) ,  Shimatani Y. (Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan) ,  Kumada S. (Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan) ,  Okumura Y. (Department of Pediatric Neurology, Shizuoka Children’s Hospital, Shizuoka, Japan) ,  Miyahara J. (Department of Neurology, Tominaga Hospital, Osaka, Japan) ,  Yamaguchi Y. (Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan) ,  Kitamura S. (Department of Neurology, Konan Hospital, Hyogo, Japan) ,  Haginoya K. (Department of Pediatric Neurology, Miyagi Children’s Hospital, Miyagi, Japan) ,  Mitsui J. (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Ishiura H. (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Tsuji S. (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Takashima H. (Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan)
Material： Clinical Genetics  (Clin Genet)
Volume： 92  Issue： 3  Page： 274-280  Publication year： 2017 
JST Material Number： E0526B  ISSN： 0009-9163  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： BACKGROUND: Mutations in GDAP1...

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Thesaurus term： *Japan ,  population (statistics) ,  autosome ,  Mutation ,  gene ,  recessive ,  Heredity ,  Phenotype ,  Biopsy ,  *patient ,  neuropathy ,  axon ,  Exome ,  *Genetic Variation ,  clinical laboratory test
Semi thesaurus term： *variation(biology) ,  *Charcot-Marie-Tooth病 , 【Automatic Indexing@JST】

Author keywords (6)： Charcot-Marie-Tooth disease ,  founder mutation ,  GDAP1 ,  gene-panel sequencing ,  inherited peripheral neuropathy ,  whole-exome sequencing

JST classification (2)： Basic neurology  (GN01020W) ,  Nervous system diseases  (GN03000O)

Terms in the title (7)： 変異 ,  起因 ,  シャルコー・マリー・トゥース病 ,  日本人 ,  患者 ,  臨床 ,  スペクトル