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Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.
Montassir, Hesham; Maegaki, Yoshihiro; Murayama, Kei; Yamazaki, Taro; Kohda, Masakazu; Ohtake, Akira; Iwasa, Hiroyasu; Yatsuka, Yukiko; Okazaki, Yasushi; Sugiura, Chitose; Nagata, Ikuo; Toyoshima, Mitsuo; Saito, Yoshiaki; Itoh, Masayuki; Nishino, Ichizo; Ohno, Kousaku.
Afiliación
  • Montassir H; Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan; Department of Family Medicine, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Maegaki Y; Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan. Electronic address: maegaki@med.tottori-u.ac.jp.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Yamazaki T; Department of Pediatrics, School of Medicine, Saitama Medical University, Saitama, Japan.
  • Kohda M; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka, Japan.
  • Ohtake A; Department of Pediatrics, School of Medicine, Saitama Medical University, Saitama, Japan.
  • Iwasa H; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka, Japan.
  • Yatsuka Y; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Hidaka, Japan.
  • Okazaki Y; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka, Japan; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Hidaka, Japan.
  • Sugiura C; Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Nagata I; Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Toyoshima M; Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
  • Saito Y; Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Itoh M; Department of Mental Retardation and Birth Defect Research, 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.
  • Ohno K; Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.
Brain Dev ; 37(7): 719-24, 2015 Aug.
Article en En | MEDLINE | ID: mdl-25466440

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Encefalopatía Hepática / ADN Polimerasa Dirigida por ADN / Mutación Límite: Female / Humans / Infant Idioma: En Revista: Brain Dev Año: 2015 Tipo del documento: Article País de afiliación: Egipto Pais de publicación: Países Bajos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Encefalopatía Hepática / ADN Polimerasa Dirigida por ADN / Mutación Límite: Female / Humans / Infant Idioma: En Revista: Brain Dev Año: 2015 Tipo del documento: Article País de afiliación: Egipto Pais de publicación: Países Bajos