Art

J-GLOBAL ID：201902245463857327   Reference number：19A1642635

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency

COX6A2変異体は筋肉特異的チトクロームcオキシダーゼ欠損を引き起こす【JST・京大機械翻訳】

Author (28)： Inoue Michio (Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Inoue Michio (Integrated Graduate School of Medicine, Engineering, and Agricultural Science, University of Yamanashi, Yamanashi, Japan) ,  Inoue Michio (Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Uchino Shumpei (Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Uchino Shumpei (Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan) ,  Iida Aritoshi (Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Noguchi Satoru (Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Noguchi Satoru (Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Hayashi Shinichiro (Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Hayashi Shinichiro (Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Takahashi Tsutomu (Department of Pediatrics, Saiseikai Utsunomiya Hospital, Tochigi, Japan) ,  Fujii Katsunori (Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan) ,  Komaki Hirofumi (Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Komaki Hirofumi (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Takeshita Eri (Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Takeshita Eri (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Nonaka Ikuya (Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Okada Yukinori (Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Yoshizawa Takuya (College of Life Sciences, Ritsumeikan University, Kusatsu, Japan) ,  Van Lommel Leentje (Department of Cellular and Molecular Medicine, Faculty of Medicine, KU Leuven, Leuven, Belgium) ,  Schuit Frans (Department of Cellular and Molecular Medicine, Faculty of Medicine, KU Leuven, Leuven, Belgium) ,  Goto Yu-ichi (Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Goto Yu-ichi (Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Goto Yu-ichi (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Mimaki Masakazu (Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Mimaki Masakazu (Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan) ,  Nishino Ichizo (Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Nishino Ichizo (Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan)
Material： Annals of Neurology  (Ann Neurol)
Volume： 86  Issue： 2  Page： 193-202  Publication year： 2019 
JST Material Number： T0008A  ISSN： 0364-5134  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： OBJECTIVE: Cytochrome c oxidas...

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Thesaurus term： skeletal muscle ,  Heredity ,  enzyme activity ,  Heart ,  striated muscle ,  allele ,  Mitochondria ,  Phenotype ,  human ,  *cytochrome c oxidase ,  missense mutation ,  knockout mouse ,  complex (substance) ,  Viscera ,  Exosomes ,  mitochondrial respiration ,  laboratory animal ,  Mus musculus

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (4)： COX6A2 ,  変異体 ,  筋肉 ,  チトクロームCオキシダーゼ欠損