The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.

@article{Wei2007TheCO,
  title={The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.},
  author={Qi-ping Wei and Xiangtian Zhou and Li Yang and Yan-Hong Sun and Jian Zhou and Guang Li and Robert Jiang and Fangzhou Lu and Jia Qu and Min-Xin Guan},
  journal={Biochemical and biophysical research communications},
  year={2007},
  volume={357 4},
  pages={
          910-6
        }
}
We report here the clinical, genetic and molecular characterization of one three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON) and hearing loss. Four of 14 matrilineal relatives exhibited the moderate central vision loss at the average age of 12.5 years. Of these, one subject exhibited both LHON and mild hearing impairment. Sequence analysis of the complete mitochondrial genomes in the pedigree showed the presence of homoplasmic LHON-associated ND6 T14484C… CONTINUE READING
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