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A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.
Itkis, Yulia; Krylova, Tatiana; Pechatnikova, Natalia L; De Grassi, Anna; Tabakov, Vyacheslav Yu; Pierri, Ciro Leonardo; Aleshin, Vasily; Boyko, Alexandra; Bunik, Victoria I; Zakharova, Ekaterina Yu.
Afiliação
  • Itkis Y; Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia. Electronic address: yulya.itkis@gmail.com.
  • Krylova T; Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia.
  • Pechatnikova NL; Morozov Municipal Children's Hospital of Moscow City, Russia.
  • De Grassi A; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari, Italy.
  • Tabakov VY; Common Use Center "Biobank", FSBI 'Research Centre for Medical Genetics", Moscow, Russia.
  • Pierri CL; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari, Italy.
  • Aleshin V; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia; Belozersky Institute of Physicochemical Biology, Lomonosov Moscow State University, Moscow, Russia.
  • Boyko A; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia.
  • Bunik VI; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia; Belozersky Institute of Physicochemical Biology, Lomonosov Moscow State University, Moscow, Russia.
  • Zakharova EY; Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia.
Mitochondrion ; 47: 10-17, 2019 07.
Article em En | MEDLINE | ID: mdl-31009750
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / RNA de Transferência de Fenilalanina / Mutação Puntual / Epilepsia / Genes Mitocondriais / RNA Mitocondrial / Doenças Genéticas Inatas Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Female / Humans Idioma: En Revista: Mitochondrion Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / RNA de Transferência de Fenilalanina / Mutação Puntual / Epilepsia / Genes Mitocondriais / RNA Mitocondrial / Doenças Genéticas Inatas Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Female / Humans Idioma: En Revista: Mitochondrion Ano de publicação: 2019 Tipo de documento: Article