Mitochondrial sequence changes in keratoconus patients.

@article{AbuAmero2014MitochondrialSC,
  title={Mitochondrial sequence changes in keratoconus patients.},
  author={Khaled K Abu-Amero and Taif Anwar Azad and Hatem A Kalantan and Tahira Sultan and Abdulrahman M. Al-Muammar},
  journal={Investigative ophthalmology & visual science},
  year={2014},
  volume={55 3},
  pages={1706-10}
}
PURPOSE We investigated whether a group of patients with keratoconus (KTCN) harbor mutations in the mitochondrial genome. METHODS We sequenced the full mitochondrial genome in a group of Saudi patients with KTCN (n = 26) and 100 ethnically matched controls who had no KTCN by examination. RESULTS A total of 10 KTCN patients (38.5%) had potentially pathogenic nonsynonymous mtDNA mutations. Of the nonsynonymous sequence changes detected, 4 (40%) were in Complex I, one was in the tRNA(Glutamine… CONTINUE READING

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