Publication:

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

      Staff

      Professor Rita Horvath
      Professor of Neurogenetics

      Dr Gavin Hudson
      Research Fellow