The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.

@article{Qu2006TheNA,
  title={The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.},
  author={Jia Qu and Ronghua Li and Xiangtian Zhou and Y Z Tong and Fangzhou Lu and Yaping Qian and Yongwu Hu and Jun Qin Mo and Constance E. West and Min-Xin Guan},
  journal={Investigative ophthalmology & visual science},
  year={2006},
  volume={47 2},
  pages={475-83}
}
PURPOSE To investigating the role of mitochondrial haplotypes in the development of Leber's hereditary optic neuropathy (LHON) associated with the ND4 G11778A mutation in Chinese families. METHODS A three-generation Chinese family with LHON was studied by clinical and genetic evaluation as well as molecular and biochemical analysis of mitochondrial (mt)DNA. RESULTS This family exhibits a high penetrance and expressivity of visual impairment. The average age at onset was 13.9 years in this… CONTINUE READING

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