Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome

@article{Xu2017NovelMO,
  title={Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome},
  author={Bing Xu and Xiyuan Li and Miaomiao Du and Chao Zhou and Hezhi Fang and Jianxin Lyu and Yan-ling Yang},
  journal={Journal of Human Genetics},
  year={2017},
  volume={62},
  pages={291-297}
}
By using next-generation sequencing targeted to MitoExome including the entire mtDNA and exons of 1033 genes encoding the mitochondrial proteome, we described here a novel m.11240C>T mutation in the mitochondrial ND4 gene from a patient with Leigh syndrome. High mutant loads of m.11240C>T were detected in blood, urinary epithelium, oral mucosal epithelium cells, and skin fibroblasts of the patient. Decreased mitochondrial complex I activity was found in transmitochondrial cybrids containing the… CONTINUE READING
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