Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance (2008)

Author(s): Hudson G, Amati-Bonneau P, Blakely E, Stewart J, He L, Schaefer A, Griffiths P, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull D, Chinnery P, Taylor R

      • Journal: Brain
      • Volume: 131
      • Issue: 2
      • Pages: 329-337
      • Publisher: Oxford University Press
      • Publication type: Article
      • Bibliographic status: Published

      Professor Patrick Chinnery
      Wellcome Senior Fellow in Clinical Science and Professor of Neurogenetics

      Dr Bobby McFarland
      Clinical Senior Lecturer and Hon Consultant Paediatric Neurologist

      Professor Robert Taylor
      Professor of Mitochondrial Pathology

      Professor Doug Turnbull
      Professor of Neurology