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Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Marchet, Silvia; Legati, Andrea; Nasca, Alessia; Di Meo, Ivano; Spagnolo, Manuela; Zanetti, Nadia; Lamantea, Eleonora; Catania, Alessia; Lamperti, Costanza; Ghezzi, Daniele.
  • Marchet S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Di Meo I; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Spagnolo M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Zanetti N; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Catania A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Hum Mutat ; 41(10): 1745-1750, 2020 10.
Article en En | MEDLINE | ID: mdl-32652806
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Oftalmoplejía / Oftalmoplejía Externa Progresiva Crónica / Miopatías Mitocondriales / Proteínas Mitocondriales Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Oftalmoplejía / Oftalmoplejía Externa Progresiva Crónica / Miopatías Mitocondriales / Proteínas Mitocondriales Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article