Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies

Serenella Servidei, Enzo Ricci, Gabriella Silvestri, Enrico Silvio Bertini, M. Zeviani, C. Gellera, S. Di Mauro, S. Di Donate

Risultato della ricerca: Contributo in rivistaArticolo in rivista

129 Citazioni (Scopus)

Abstract

We studied a large family with a dominantly inherited mitochondrial myopathy characterized by progressive external ophthalmoplegia, dysphagia, cataract, lactic acidosis, exercise intolerance, and early death. Morphologic studies of muscle biopsies suggested mitochondrial heteroplasmy and revealed ragged-red fibers and decreased histochemical reactions for cytochrome c oxidase and succinate dehydrogenase. Biochemistry showed a partial defect of cytochrome c oxidase and a mild generalized reduction of other mitochondrial enzymes requiring mitochondrial DNA-encoded subunits. Southern blot analysis and PCR amplification showed mitochondrial DNA deletions in muscle of all affected members, but not in lymphocytes or fibroblasts, suggesting a tissue-specific distribution. Deletions were multiple and seemed to increase with time and to correlate with the severity of the disease. © 1991 American Academy of Neurology.
Lingua originaleEnglish
pagine (da-a)1053-1059
Numero di pagine7
RivistaNeurology
Volume1991; 41
DOI
Stato di pubblicazionePubblicato - 1991

Keywords

  • mitochondrial myopathy
  • mitochondrial DNA

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