Widespread tissue distribution of mitochondrial dna deletions in kearns-sayre syndrome

S. Shanske, C. T. Moraes, A. Lombes, A. F. Miranda, E. Bonilla, P. Lewis, M. A. Whelan, C. A. Ellsworth, S. Dimauro

Research output: Contribution to journalArticlepeer-review

156 Scopus citations


We performed Southern analysis of mitochondrial DNA (mtDNA) in 6 tissues from a patient with Kearns-Sayre syndrome and found a single deletion of 4.9 kb in all tissues. The percentage of deleted mtDNAs varied widely between tissues, from only 4% in smooth muscle to approximately 50% in skeletal muscle. Samples of DNA obtained from 3 different skeletal muscles and from separate areas of individual tissues showed little variation in percentage of deleted mtDNA. Biochemical analysis showed no clear correlation between mitochondrial enzyme activity and deleted mtDNAs.

Original languageEnglish (US)
Pages (from-to)24-28
Number of pages5
Issue number1
StatePublished - Jan 1990
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology


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