Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

Nicoletta Checcarelli, Allessandro Prelle, Maurizio Moggio, Giacomo Comi, Nereo Bresolin, Alex Papadimitriou, Gigliola Fagiolari, Andreina Bordoni, Guglielmo Scarlato

Research output: Contribution to journalArticlepeer-review


Multiple deletions of mitochondrial DNA (mtDNA) were first identified in patients with mitochondrial encephalomyopathy with a clear mendelian inheritance. We found this genetic alteration in four atypical and sporadic cases of mitochondrial encephalomyopathy, characterized by RRF and partial COX deficiency. One patient was affected by essential hyperCPKemia, 1 by subacute onset flaccid tetraplegia and 2 by parkinsonism. Southern blot and PCR revealed mtDNA multiple deletions in muscle tissue of these patients. These findings indicate that these alterations are not confined to the families with mendelian transmission, but can be present in sporadic cases with heterogeneous phenotypic features.

Original languageEnglish
Pages (from-to)74-79
Number of pages6
JournalJournal of the Neurological Sciences
Issue number1-2
Publication statusPublished - 1994


  • Encephalomyopathy
  • Mitochondrial DNA
  • Multiple deletions

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology


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