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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
      Clinical Senior Lecturer and Hon Consultant Paediatric Neurologist

      Professor Robert Taylor
      Professor of Mitochondrial Pathology

      Professor Doug Turnbull
      Professor of Neurology