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Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
Roos, Sara; Sofou, Kalliopi; Hedberg-Oldfors, Carola; Kollberg, Gittan; Lindgren, Ulrika; Thomsen, Christer; Tulinius, Mar; Oldfors, Anders.
Afiliação
  • Roos S; Department of Pathology and Genetics and Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden. sara.roos@gu.se.
  • Sofou K; Department of Pediatrics, The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Hedberg-Oldfors C; Department of Pathology and Genetics and Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
  • Kollberg G; Department of Clinical Chemistry, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
  • Lindgren U; Department of Pathology and Genetics and Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
  • Thomsen C; Department of Pathology and Genetics and Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
  • Tulinius M; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.
  • Oldfors A; Department of Pathology and Genetics and Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Eur J Hum Genet ; 27(2): 331-335, 2019 02.
Article em En | MEDLINE | ID: mdl-30315213
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Carnitina / Mutação da Fase de Leitura / Complexo IV da Cadeia de Transporte de Elétrons / Doenças Mitocondriais / Doenças Musculares Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Carnitina / Mutação da Fase de Leitura / Complexo IV da Cadeia de Transporte de Elétrons / Doenças Mitocondriais / Doenças Musculares Idioma: En Ano de publicação: 2019 Tipo de documento: Article