Deletions of mitochondrial DNA in Kearns-Sayre syndrome

M. Zeviani, C. T. Moraes, S. DiMauro, H. Nakase, E. Bonilla, E. A. Schon, L. P. Rowland

Research output: Contribution to journalArticlepeer-review

625 Scopus citations


We have identified large-scale deletions in muscle mitochondrial DNA (mtDNA) in seven of seven patients with Kearns-Sayre syndrome (KSS). We found no detectable deletions in the mtDNA of ten non-KSS patients with other mitochondrial myopathies or encephalomyopathies, or three normal controls. The deletions ranged in size from 2.0 to 7.0 kb, and did not localize to any single region of the mitochondrial genome. The proportion of mutated genomes in each KSS patient ranged from 45% to 75% of total mtDNA. There was no correlation between the size or site of the deletion, biochemical abnormalities of mitochondrial enzymes, or clinical severity. The data bolster argue that KSS is a unique disorder and genetic in origin.

Original languageEnglish (US)
Pages (from-to)1339-1346
Number of pages8
Issue number9
StatePublished - Sep 1988
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology


Dive into the research topics of 'Deletions of mitochondrial DNA in Kearns-Sayre syndrome'. Together they form a unique fingerprint.

Cite this