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

26 Citations (Scopus)

Abstract

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
Volume96
Issue number2-3
DOIs
Publication statusPublished - 1990

Fingerprint

Kearns-Sayre Syndrome
Mitochondrial DNA
Inborn Genetic Diseases
Cerebellum
Oocytes
Myocardium
Embryonic Structures
Kidney
Liver
Population

Keywords

  • Kearns-Sayre syndrome
  • Mitochondrial myopathies
  • mtDNA deletions

ASJC Scopus subject areas

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

Cite this

Kearns-Sayre syndrome : Different amounts of deleted mitochondrial DNA are present in several autoptic tissues. / Ponzetto, C.; Bresolin, N.; Bordoni, A.; Moggio, M.; Meola, G.; Bet, L.; Prelle, A.; Scarlato, G.

In: Journal of the Neurological Sciences, Vol. 96, No. 2-3, 1990, p. 207-210.

Research output: Contribution to journalArticle

Ponzetto, C. ; Bresolin, N. ; Bordoni, A. ; Moggio, M. ; Meola, G. ; Bet, L. ; Prelle, A. ; Scarlato, G. / Kearns-Sayre syndrome : Different amounts of deleted mitochondrial DNA are present in several autoptic tissues. In: Journal of the Neurological Sciences. 1990 ; Vol. 96, No. 2-3. pp. 207-210.
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