#
Publication:

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations (2011)

Author(s): Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke X, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR

      • Date: 01-07-2011
      • Journal: European Journal of Human Genetics
      • Volume: 19
      • Issue: 7
      • Pages: 769-775
      • Publisher: Nature Publishing Group
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: respiratory chain complex I mitochondrial DNA mutation genetic counselling LEIGH-SYNDROME UBIQUINONE OXIDOREDUCTASE G13513A MUTATION LACTIC-ACIDOSIS COMMON-CAUSE ND3 GENE DISEASE DISORDERS CHILDREN MYOPATHY

      Staff

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

      Professor Robert Taylor
      Professor of Mitochondrial Pathology

      Professor Doug Turnbull
      Professor of Neurology