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NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.
Ishiyama, A; Muramatsu, K; Uchino, S; Sakai, C; Matsushima, Y; Makioka, N; Ogata, T; Suzuki, E; Komaki, H; Sasaki, M; Mimaki, M; Goto, Y-I; Nishino, I.
Afiliação
  • Ishiyama A; Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), National Center Hospital, Tokyo, Japan.
  • Muramatsu K; Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan.
  • Uchino S; Department of Pharmacology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan.
  • Sakai C; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
  • Matsushima Y; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
  • Makioka N; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Tokyo, Japan.
  • Ogata T; Department of Pediatrics, Faculty of Medicine, Teikyo University, Tokyo, Japan.
  • Suzuki E; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Tokyo, Japan.
  • Komaki H; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Tokyo, Japan.
  • Sasaki M; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
  • Mimaki M; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
  • Goto YI; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
  • Nishino I; Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), National Center Hospital, Tokyo, Japan.
Clin Genet ; 93(5): 1103-1106, 2018 05.
Article em En | MEDLINE | ID: mdl-29344937
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Proteínas Mitocondriais / Leucoencefalopatias / Mitocôndrias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Proteínas Mitocondriais / Leucoencefalopatias / Mitocôndrias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão