Kearns-Sayre syndrome: Different amounts of deleted mitochondrial DNA are present in several autoptic tissues

C. Ponzetto, N. Bresolin, A. Bordoni, M. Moggio, G. Meola, L. Bet, A. Prelle, G. Scarlato

Research output: Contribution to journalArticle


A population of deleted mitochondrial DNA (mtDNA) was found in different amounts in autoptic muscle, heart, cortex, cerebellum, liver and kidney of a patient who died of Kearn-Sayre Syndrome (KSS). The widespread occurrence of the deletion correlates with the multisystem nature of KSS and supports the hypothesis that this is a genetic disease due to an alteration of mtDNA presumably arising in the oocyte or early embryo.

Original languageEnglish
Pages (from-to)207-210
Number of pages4
JournalJournal of the Neurological Sciences
Issue number2-3
Publication statusPublished - 1990



  • Kearns-Sayre syndrome
  • Mitochondrial myopathies
  • mtDNA deletions

ASJC Scopus subject areas

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

Cite this