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
      DoH/HEFCE Clinical Senior Lecturer and Consultant Paediatric Neurologist