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Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville, Ewen W; Ng, Yi Shiau; Alston, Charlotte L; Dallabona, Cristina; Gilberti, Micol; He, Langping; Knowles, Charlotte; Chin, Sophie L; Schaefer, Andrew M; Falkous, Gavin; Murdoch, David; Longman, Cheryl; de Visser, Marianne; Bindoff, Laurence A; Rawles, John M; Dean, John C S; Petty, Richard K; Farrugia, Maria E; Haack, Tobias B; Prokisch, Holger; McFarland, Robert; Turnbull, Douglass M; Donnini, Claudia; Taylor, Robert W; Gorman, Gráinne S.
Afiliación
  • Sommerville EW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Ng YS; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Alston CL; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Dallabona C; Department of Life Sciences, University of Parma, Parma, Italy.
  • Gilberti M; Department of Life Sciences, University of Parma, Parma, Italy.
  • He L; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Knowles C; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Chin SL; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Schaefer AM; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Falkous G; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Murdoch D; Department of Cardiology, Queen Elizabeth University Hospital, Glasgow, Scotland.
  • Longman C; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland.
  • de Visser M; Department of Neurology, Academic Medical Centre, Amsterdam, the Netherlands.
  • Bindoff LA; Department of Clinical Medicine, Department of Clinical Medicine, University of Bergen, Bergen, Norway7Department of Neurology, Haukeland University Hospital, Bergen, Norway.
  • Rawles JM; Department of Medicine, University of Aberdeen, Aberdeen, Scotland (retired).
  • Dean JCS; Department of Medical Genetics, Medical School Building, University of Aberdeen, Aberdeen, Scotland.
  • Petty RK; Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, Scotland.
  • Farrugia ME; Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, Scotland.
  • Haack TB; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany12Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany12Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • McFarland R; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Turnbull DM; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Donnini C; Department of Life Sciences, University of Parma, Parma, Italy.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
  • Gorman GS; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
JAMA Neurol ; 74(6): 686-694, 2017 06 01.
Article en En | MEDLINE | ID: mdl-28395030
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Insuficiencia Respiratoria / Tirosina-ARNt Ligasa / Acidosis Láctica / Miopatías Mitocondriales / Debilidad Muscular / Anemia Sideroblástica / Cardiomiopatías Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: JAMA Neurol Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Insuficiencia Respiratoria / Tirosina-ARNt Ligasa / Acidosis Láctica / Miopatías Mitocondriales / Debilidad Muscular / Anemia Sideroblástica / Cardiomiopatías Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: JAMA Neurol Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos