#
Publication:

Multi-system neurological disease is common in patients with OPA1 mutations (2010)

Author(s): Yu Wai Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF

      • Date: 01-03-2010
      • Journal: Brain
      • Volume: 133
      • Pages: 771-786
      • Publisher: Oxford University Press
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: deletions dominant optic atrophy hereditary spastic paraplegia mitochondrial DNA multiple sclerosis OPA1 DOMINANT OPTIC ATROPHY SENSORINEURAL HEARING-LOSS PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA MITOCHONDRIAL-DNA DELETIONS VISUAL-ACUITY TEST MULTIPLE-SCLEROSIS CLINICAL-FEATURES COUNTING FINGERS CHINESE FAMILY MTDNA MUTATION

      Staff

      Dr Mark Baker
      Honorary Clinical Lecturer

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

      Dr Bobby McFarland
      DoH/HEFCE Clinical Senior Lecturer and Consultant Paediatric Neurologist

      Dr Roger Whittaker
      Honorary Clinical Senior Lecturer

      Dr Patrick Yu Wai Man
      MRC Clinician Scientist