Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy (2009)

Author(s): Horvath R, Kemp JP, Tuppen HAL, Hudson G, Oldfors A, Marie SKN, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Gunther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Hirano M, Lochmuller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S

      • Date: 01-11-2009
      • Journal: Brain
      • Volume: 132
      • Issue: 11
      • Pages: 3165-3174
      • Publisher: Oxford University Press
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: mitochondrial myopathy reversible COX deficiency homoplasmic tRNA mutation MITOCHONDRIAL MYOPATHY DIAGNOSIS MUTATION DISEASE ENCEPHALOMYOPATHIES PREVALENCE DEPLETION


      Professor Patrick Chinnery
      Institute Director

      Professor Robert Lightowlers
      Director, ICaMB and Professor of Molecular Neuroscience

      Dr Bobby McFarland
      Clinical Senior Lecturer and Hon Consultant Paediatric Neurologist