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Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
Invernizzi, Federica; Legati, Andrea; Nasca, Alessia; Lamantea, Eleonora; Garavaglia, Barbara; Gusic, Mirjana; Kopajtich, Robert; Prokisch, Holger; Zeviani, Massimo; Lamperti, Costanza; Ghezzi, Daniele.
Afiliação
  • Invernizzi F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Garavaglia B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Gusic M; Institute of Human Genetics, School of Medicine, Technische Universität München, 81675 Munich, Germany.
  • Kopajtich R; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, 81675 Munich, Germany.
  • Zeviani M; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Lamperti C; Institute of Human Genetics, School of Medicine, Technische Universität München, 81675 Munich, Germany.
  • Ghezzi D; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Brain ; 144(9): e74, 2021 10 22.
Article em En | MEDLINE | ID: mdl-34165507

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Musculares Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Musculares Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article