Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation

@inproceedings{Zhu2013AnalysisOT,
  title={Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation},
  author={Yuhua Zhu and Sha-sha Huang and Dong-yang Kang and Ming-yu Han and Guo-jian Wang and Yong-Yi Yuan and Yu Su and Huijun Yuan and Suoqiang Zhai and Pu Dai},
  booktitle={BMC Genetics},
  year={2013}
}
Mitochondrial cytopathies are characterized by a large variability of clinical phenotypes and severity. The amount of mutant mitochondrial DNA (mtDNA) in a cell, called the heteroplasmy level, is an important determinant of the degree of mitochondrial dysfunction and therefore disease severity. Understanding the distribution of heteroplasmy levels across a… CONTINUE READING