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Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
Spiegel, Ronen; Saada, Ann; Flannery, Padraig J; Burté, Florence; Soiferman, Devorah; Khayat, Morad; Eisner, Verónica; Vladovski, Eugene; Taylor, Robert W; Bindoff, Laurence A; Shaag, Avraham; Mandel, Hanna; Schuler-Furman, Ora; Shalev, Stavit A; Elpeleg, Orly; Yu-Wai-Man, Patrick.
Afiliação
  • Spiegel R; Pediatric Department B', Genetic Institute, Emek Medical Center, Afula, Israel Genetic Institute, Emek Medical Center, Rappaport School of Medicine, Technion, Haifa, Israel.
  • Saada A; Monique and Jacques Roboh Department of Genetic Research, Hebrew University, Hadassah Medical Center, Jerusalem, Israel.
  • Flannery PJ; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Burté F; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Soiferman D; Monique and Jacques Roboh Department of Genetic Research, Hebrew University, Hadassah Medical Center, Jerusalem, Israel.
  • Khayat M; Genetic Institute, Emek Medical Center, Rappaport School of Medicine, Technion, Haifa, Israel.
  • Eisner V; Department of Cellular and Molecular Biology, School of Biological Sciences, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Vladovski E; Department of Pathology, Rambam Medical Center, Haifa, Israel.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Bindoff LA; Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hebrew University, Hadassah Medical Center, Jerusalem, Israel.
  • Mandel H; Metabolic Unit, Rambam Medical Center.
  • Schuler-Furman O; Department of Microbiology and Molecular Genetics, Hebrew University, Hadassah Medical Center, Jerusalem, Israel.
  • Shalev SA; Genetic Institute, Emek Medical Center, Rappaport School of Medicine, Technion, Haifa, Israel.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hebrew University, Hadassah Medical Center, Jerusalem, Israel.
  • Yu-Wai-Man P; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
J Med Genet ; 53(2): 127-31, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26561570
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Atrofia Óptica / Encefalomiopatias Mitocondriais / GTP Fosfo-Hidrolases / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Pregnancy Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Atrofia Óptica / Encefalomiopatias Mitocondriais / GTP Fosfo-Hidrolases / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Pregnancy Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article