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Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.
Poole, Olivia V; Everett, Chris M; Gandhi, Sonia; Marino, Silvia; Bugiardini, Enrico; Woodward, Cathy; Lam, Amanda; Quinlivan, Ros; Hanna, Michael G; Pitceathly, Robert D S.
Affiliation
  • Poole OV; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
  • Everett CM; Department of Neurology, Southend University Hospital NHS Foundation Trust, Essex, UK; Department of Neurology, The Royal London Hospital, Barts Health NHS Trust, London, UK.
  • Gandhi S; Department of Neurology, Southend University Hospital NHS Foundation Trust, Essex, UK; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
  • Marino S; Cellular Pathology, The Royal London Hospital, Barts Health NHS Trust, London, UK; Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Bugiardini E; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
  • Woodward C; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Lam A; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK; Department of Chemical Pathology, Great Ormond Street Hospital, London, UK.
  • Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK.
  • Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
  • Pitceathly RDS; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: r.pitceathly@ucl.ac.uk.
Mitochondrion ; 47: 294-297, 2019 07.
Article in En | MEDLINE | ID: mdl-30743023
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leigh Disease / Optic Atrophies, Hereditary / Electron Transport Complex IV / Codon, Terminator Limits: Adult / Female / Humans Language: En Journal: Mitochondrion Year: 2019 Type: Article Affiliation country: United kingdom
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leigh Disease / Optic Atrophies, Hereditary / Electron Transport Complex IV / Codon, Terminator Limits: Adult / Female / Humans Language: En Journal: Mitochondrion Year: 2019 Type: Article Affiliation country: United kingdom