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Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas, Milla-Riikka; Widgren, Paula; Korpelainen, Paavo; Kangas, Salla M; Komulainen, Tuomas; Vieira, Päivi; Rahikkala, Elisa; Pylkäs, Katri; Tuominen, Hannu; Kokkonen, Hannaleena; Miinalainen, Ilkka; Nadaf, Javad; Majewski, Jacek; Hinttala, Reetta; Uusimaa, Johanna.
Afiliación
  • Hautakangas MR; Research Unit of Clinical Medicine, Medical Research Center, University of Oulu, Oulu, Finland.
  • Widgren P; Oulu University Hospital, Oulu, Finland.
  • Korpelainen P; Research Unit of Clinical Medicine, Medical Research Center, University of Oulu, Oulu, Finland.
  • Kangas SM; Oulu University Hospital, Oulu, Finland.
  • Komulainen T; Research Unit of Clinical Medicine, Medical Research Center, University of Oulu, Oulu, Finland.
  • Vieira P; Oulu University Hospital, Oulu, Finland.
  • Rahikkala E; Research Unit of Clinical Medicine, Medical Research Center, University of Oulu, Oulu, Finland.
  • Pylkäs K; Oulu University Hospital, Oulu, Finland.
  • Tuominen H; Research Unit of Clinical Medicine, Medical Research Center, University of Oulu, Oulu, Finland.
  • Kokkonen H; Oulu University Hospital, Oulu, Finland.
  • Miinalainen I; Research Unit of Clinical Medicine, Medical Research Center, University of Oulu, Oulu, Finland.
  • Nadaf J; Oulu University Hospital, Oulu, Finland.
  • Majewski J; Research Unit of Clinical Medicine, Medical Research Center, University of Oulu, Oulu, Finland.
  • Hinttala R; Oulu University Hospital, Oulu, Finland.
  • Uusimaa J; Biocenter Oulu, University of Oulu, Oulu, Finland.
Clin Genet ; 104(6): 686-693, 2023 12.
Article en En | MEDLINE | ID: mdl-37574199
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Atrofia Óptica / Errores Innatos del Metabolismo Tipo de estudio: Risk_factors_studies Límite: Humans / Infant Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Finlandia
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Atrofia Óptica / Errores Innatos del Metabolismo Tipo de estudio: Risk_factors_studies Límite: Humans / Infant Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Finlandia