Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation (2010)

Author(s): Tuppen HAL, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He LP, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW

      • Date: 01-08-2010
      • Journal: Molecular Genetics and Metabolism
      • Volume: 100
      • Issue: 4
      • Pages: 345-348
      • Publisher: Academic Press
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Mitochondrial disease Complex III BCS1L mutation Complex assembly Yeast complementation studies PROTEIN ENCEPHALOPATHY YEAST


      Dr Bobby McFarland
      Clinical Senior Lecturer and Hon Consultant Paediatric Neurologist

      Dr Helen Tuppen
      Research Associate (Scientific Officer)