Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.

@article{Zhao2009LebersHO,
  title={Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.},
  author={Fuxin Zhao and Minqiang Guan and Xiangtian Zhou and Meixia Yuan and Ming Liang and Qi Liu and Yan Liu and Yongmei Zhang and Li Yang and Y Z Tong and Qi-ping Wei and Yan-Hong Sun and Jia Qu and Min-Xin Guan},
  journal={Biochemical and biophysical research communications},
  year={2009},
  volume={389 3},
  pages={466-72}
}
We report here the clinical, genetic, and molecular characterization of three Chinese families with Leber's hereditary optic neuropathy (LHON). There were variable severity and age of onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of complete mitochondrial genomes in these pedigrees showed the homoplasmic T14502C (I58V) mutation, which localized at a highly conserved isoleucine… CONTINUE READING
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