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DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.
Zaha, K; Matsumoto, H; Itoh, M; Saitsu, H; Kato, K; Kato, M; Ogata, S; Murayama, K; Kishita, Y; Mizuno, Y; Kohda, M; Nishino, I; Ohtake, A; Okazaki, Y; Matsumoto, N; Nonoyama, S.
Afiliación
  • Zaha K; Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.
  • Matsumoto H; Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan. matumoto@ndmc.ac.jp.
  • Itoh M; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. itoh@ncnp.go.jp.
  • Saitsu H; Department of human genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • Kato K; Department of Laboratory Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
  • Kato M; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Yamagata, Japan.
  • Ogata S; Department of Laboratory Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Kishita Y; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
  • Mizuno Y; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
  • Kohda M; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
  • Nishino I; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
  • Ohtake A; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
  • Okazaki Y; Department of Pediatrics, Saitama Medical University, Saitama, Japan.
  • Matsumoto N; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
  • Nonoyama S; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Clin Genet ; 90(5): 472-474, 2016 11.
Article en En | MEDLINE | ID: mdl-27301544
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Enfermedad de Leigh / Proteínas Mitocondriales / GTP Fosfohidrolasas / Proteínas Asociadas a Microtúbulos Límite: Humans Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Enfermedad de Leigh / Proteínas Mitocondriales / GTP Fosfohidrolasas / Proteínas Asociadas a Microtúbulos Límite: Humans Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Dinamarca