Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Rita Horvath, John P. Kemp, Helen A. L. Tuppen, Gavin Hudson, Anders Oldfors, Suely K. N. Marie, Ali-Reza Moslemi, Serenella Servidei, Elisabeth Holme, Sara Shanske, Gittan Kollberg, Parul Jayakar, Angela Pyle, Harold M. Marks, Elke Holinski-Feder, Mena Scavina, Maggie C. Walter, Jorida Oku, Andrea Günther-Scholz, Paul M. SmithRobert Mcfarland, Zofia M. A. Chrzanowska-Lightowlers, Robert N. Lightowlers, Michio Hirano, Hanns Lochmüller, Robert W. Taylor, Patrick F. Chinnery, Mar Tulinius, Salvatore Dimauro

Risultato della ricerca: Contributo in rivistaArticolo in rivista

79 Citazioni (Scopus)


Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. Here we define the principal molecular basis of the disorder by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patients from 12 families. Our results provide functional evidence for the pathogenicity of the mutation and show that tissue-specific mechanisms downstream of tRNA(Glu) may explain the spontaneous recovery. This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis.
Lingua originaleEnglish
pagine (da-a)3165-3174
Numero di pagine10
Stato di pubblicazionePubblicato - 2009


  • Cytochrome-c Oxidase Deficiency
  • Infant, Newborn
  • Mitochondria
  • Mitochondrial Encephalomyopathies


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