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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Thompson, Kyle; Majd, Homa; Dallabona, Cristina; Reinson, Karit; King, Martin S; Alston, Charlotte L; He, Langping; Lodi, Tiziana; Jones, Simon A; Fattal-Valevski, Aviva; Fraenkel, Nitay D; Saada, Ann; Haham, Alon; Isohanni, Pirjo; Vara, Roshni; Barbosa, Inês A; Simpson, Michael A; Deshpande, Charu; Puusepp, Sanna; Bonnen, Penelope E; Rodenburg, Richard J; Suomalainen, Anu; Õunap, Katrin; Elpeleg, Orly; Ferrero, Ileana; McFarland, Robert; Kunji, Edmund R S; Taylor, Robert W.
Afiliación
  • Thompson K; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Majd H; The Medical Research Council, Mitochondrial Biology Unit, Cambridge Biomedical Campus, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 0XY, UK.
  • Dallabona C; Department of Life Sciences, University of Parma, Parco Area delle Scienze 11A, Parma 43124, Italy.
  • Reinson K; Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, 51014 Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, 51014 Tartu, Estonia.
  • King MS; The Medical Research Council, Mitochondrial Biology Unit, Cambridge Biomedical Campus, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 0XY, UK.
  • Alston CL; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • He L; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Lodi T; Department of Life Sciences, University of Parma, Parco Area delle Scienze 11A, Parma 43124, Italy.
  • Jones SA; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, St Marys Hospital, Oxford Road, Manchester M13 9WL, UK.
  • Fattal-Valevski A; Paediatric Neurology Unit, "Dana" Children Hospital, Tel Aviv Sourasky Medical Centre, Sackler Faculty of Medicine, Tel Aviv University, 64239 Tel Aviv, Israel.
  • Fraenkel ND; Department of Respiratory Rehabilitation, Alyn Hospital, Jerusalem 91090, Israel.
  • Saada A; Metabolic Laboratory Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
  • Haham A; Neonatal Intensive Care Unit, "Lis" Maternity Hospital, Tel Aviv Sourasky Medical Centre, 64239 Tel Aviv, Israel.
  • Isohanni P; Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland; Department of Pediatric Neurology, Children's Hospital, Helsinki University Hospital and University of Helsinki, 00290 Helsinki, Finland.
  • Vara R; Department of Paediatric Inherited Metabolic Diseases, Evelina Children's Hospital, London SE1 7EH, UK.
  • Barbosa IA; Division of Genetics and Molecular Medicine, King's College London School of Medicine, London SE1 9RY, UK.
  • Simpson MA; Division of Genetics and Molecular Medicine, King's College London School of Medicine, London SE1 9RY, UK.
  • Deshpande C; Clinical Genetics Unit, Guys and St Thomas' NHS Foundation Trust, London SE1 9RT, UK.
  • Puusepp S; Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, 51014 Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, 51014 Tartu, Estonia.
  • Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Department of Paediatrics, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Suomalainen A; Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland; Department of Neurosciences, Helsinki University Hospital and University of Helsinki, 00290 Helsinki, Finland.
  • Õunap K; Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, 51014 Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, 51014 Tartu, Estonia.
  • Elpeleg O; The Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
  • Ferrero I; Department of Life Sciences, University of Parma, Parco Area delle Scienze 11A, Parma 43124, Italy.
  • McFarland R; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Kunji ER; The Medical Research Council, Mitochondrial Biology Unit, Cambridge Biomedical Campus, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 0XY, UK.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. Electronic address: robert.taylor@ncl.ac.uk.
Am J Hum Genet ; 99(4): 860-876, 2016 10 06.
Article en En | MEDLINE | ID: mdl-27693233
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Mitocondrial / Enfermedades Mitocondriales / Translocador 1 del Nucleótido Adenina / Variaciones en el Número de Copia de ADN / Genes Dominantes / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Mitocondrial / Enfermedades Mitocondriales / Translocador 1 del Nucleótido Adenina / Variaciones en el Número de Copia de ADN / Genes Dominantes / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2016 Tipo del documento: Article