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The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.
Brautbar, Ariel; Wang, Jing; Abdenur, Jose E; Chang, Richard C; Thomas, Janet A; Grebe, Theresa A; Lim, Cynthia; Weng, Shao-Wen; Graham, Brett H; Wong, Lee-Jun.
Afiliação
  • Brautbar A; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.
  • Wang J; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.
  • Abdenur JE; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA.
  • Chang RC; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA.
  • Thomas JA; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, School of Medicine, Denver, CO, USA.
  • Grebe TA; Phoenix Genetics Program, St. Joseph's Hospital, Phoenix, AZ, USA.
  • Lim C; Phoenix Genetics Program, St. Joseph's Hospital, Phoenix, AZ, USA.
  • Weng SW; Department of Internal Medicine, Chang Gung Memorial Hospital, Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
  • Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.
  • Wong LJ; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.
Mol Genet Metab ; 94(4): 485-490, 2008 Aug.
Article em En | MEDLINE | ID: mdl-18495510
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Leigh / Mutação Puntual / Proteínas Mitocondriais / Complexo I de Transporte de Elétrons / Mitocôndrias / Músculos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2008 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Leigh / Mutação Puntual / Proteínas Mitocondriais / Complexo I de Transporte de Elétrons / Mitocôndrias / Músculos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2008 Tipo de documento: Article