Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

  title={Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.},
  author={Carlos T Moraes and Salvatore Dimauro and Massimo Zeviani and Anne Lombes and Sara Shanske and Armand F. Miranda and Hirofumi Nakase and Eduardo Bonilla and Lineu C{\'e}sar Werneck and Serenella Servidei},
  journal={The New England journal of medicine},
  volume={320 20},
We investigated the correlations of deletions of mitochondrial DNA in skeletal muscle with clinical manifestations of mitochondrial myopathies, a group of disorders defined either by biochemical abnormalities of mitochondria or by morphologic changes causing a ragged red appearance of the muscle fibers histochemically. We performed genomic Southern blot analysis of muscle mitochondrial DNA from 123 patients with different mitochondrial myopathies or encephalomyopathies. Deletions were found in… CONTINUE READING
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