Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

@article{Poulton1994AreDO,
  title={Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?},
  author={Joanna Poulton and Karl J Morten and Karin Weber and Garry Brown and Laurence Bindoff},
  journal={Human molecular genetics},
  year={1994},
  volume={3 6},
  pages={947-51}
}
The phenotypes of Kearns-Sayre syndrome (KSS) and chronic progressive external ophthalmoplegia (CPEO) are closely associated with deletions of mitochondrial DNA (mtDNA). Recent evidence suggesting that more than one type of rearrangement may be present in KSS led us to reinvestigate 18 patients with KSS or CPEO for the presence of mtDNA rearrangements other than deletion. mtDNA duplication was detectable in 10 of 10 patients with KSS, while deletion monomers were the only recombinant mtDNA… CONTINUE READING
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