Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.

  title={Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.},
  author={Sara Shanske and Carlos T Moraes and Anne Lombes and Armand F. Miranda and Eduardo Bonilla and Patrick Lewis and Mary Anne Whelan and Charlene A Ellsworth and Salvatore Dimauro},
  volume={40 1},
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… CONTINUE READING

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