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Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
Glasgow, Ruth I C; Thompson, Kyle; Barbosa, Inês A; He, Langping; Alston, Charlotte L; Deshpande, Charu; Simpson, Michael A; Morris, Andrew A M; Neu, Axel; Löbel, Ulrike; Hall, Julie; Prokisch, Holger; Haack, Tobias B; Hempel, Maja; McFarland, Robert; Taylor, Robert W.
Affiliation
  • Glasgow RIC; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Barbosa IA; Department of Medical and Molecular Genetics, King's College London School of Medicine, London, UK.
  • He L; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Deshpande C; Department of Medical and Molecular Genetics, King's College London School of Medicine, London, UK.
  • Simpson MA; Department of Medical and Molecular Genetics, King's College London School of Medicine, London, UK.
  • Morris AAM; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
  • Neu A; Alder Hey Children's Hospital NHS Foundation Trust, Liverpool, UK.
  • Löbel U; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Hall J; Department of Diagnostic and Interventional Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Prokisch H; Department of Neuroradiology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
  • Haack TB; Institute of Human Genetics, Helmholtz Zentrum München, Oberschleißheim, Germany.
  • Hempel M; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • McFarland R; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Taylor RW; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Neurogenetics ; 18(4): 227-235, 2017 Dec.
Article in En | MEDLINE | ID: mdl-29075935
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peptide Elongation Factor G / Mitochondrial Diseases / Mitochondrial Proteins / Mitochondria Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Female / Humans / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2017 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peptide Elongation Factor G / Mitochondrial Diseases / Mitochondrial Proteins / Mitochondria Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Female / Humans / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2017 Document type: Article Affiliation country: Country of publication: