Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.

@article{Tang2010MaternallyIH,
  title={Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.},
  author={Xiao-wen Tang and Ronghua Li and Jing Zheng and Qin Cai and Ting Zhang and Shasha Gong and Wuwei Zheng and Xiumei He and Yi Zhu and L. Q. Xue and Aifen Yang and Li Yang and Jian-xin Lu and Min-Xin Guan},
  journal={Molecular genetics and metabolism},
  year={2010},
  volume={100 1},
  pages={57-64}
}
Mutations in mitochondrial DNA (mtDNA) have been found to be one of the most important causes of sensorineural hearing loss. We report here a clinical, genetic, molecular and biochemical characterization of a Han Chinese pedigree with maternally transmitted nonsyndromic hearing impairment. Seven of nine matrilineal relatives exhibited a variable severity and age-at-onset (8 years old) of hearing loss. Mutational analysis of mtDNA identified the novel homoplasmic tRNA(Ser(UCN)) 7505T>C mutation… CONTINUE READING

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The deafness-associated mtDNA 7445 mutation

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