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COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
Inoue, Michio; Uchino, Shumpei; Iida, Aritoshi; Noguchi, Satoru; Hayashi, Shinichiro; Takahashi, Tsutomu; Fujii, Katsunori; Komaki, Hirofumi; Takeshita, Eri; Nonaka, Ikuya; Okada, Yukinori; Yoshizawa, Takuya; Van Lommel, Leentje; Schuit, Frans; Goto, Yu-Ichi; Mimaki, Masakazu; Nishino, Ichizo.
Affiliation
  • Inoue M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Uchino S; Integrated Graduate School of Medicine, Engineering, and Agricultural Science, University of Yamanashi, Yamanashi, Japan.
  • Iida A; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Noguchi S; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Hayashi S; Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.
  • Takahashi T; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Fujii K; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Komaki H; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Takeshita E; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Nonaka I; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Okada Y; Department of Pediatrics, Saiseikai Utsunomiya Hospital, Tochigi, Japan.
  • Yoshizawa T; Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
  • Van Lommel L; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Schuit F; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Goto YI; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Mimaki M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Ann Neurol ; 86(2): 193-202, 2019 08.
Article in En | MEDLINE | ID: mdl-31155743
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Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Electron Transport Complex IV / Muscle, Skeletal / Cytochrome-c Oxidase Deficiency / Muscle Proteins Type of study: Prognostic_studies Limits: Adolescent / Animals / Humans / Infant / Male Language: En Journal: Ann Neurol Year: 2019 Type: Article Affiliation country: Japan
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Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Electron Transport Complex IV / Muscle, Skeletal / Cytochrome-c Oxidase Deficiency / Muscle Proteins Type of study: Prognostic_studies Limits: Adolescent / Animals / Humans / Infant / Male Language: En Journal: Ann Neurol Year: 2019 Type: Article Affiliation country: Japan