Article
[Mitochondrial tRNAIle A4317G mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation].
Yi chuan = Hereditas - 1 Jun 2013
Liang Ling-Zhi, Wu Yue, Yang Ya-Ling, Cai Qin, Xiao Hong-Li, Zheng Jing, Zheng Bin-Jiao, Tang Xiao-Wen, Zhu Yi, Lu Jian-Xin, Guan Min-Xin
Abstract excerpt
Mitochondrial 12S rRNA A1555G mutation has been associated with both aminoglycoside-induced and nonsyndromic hearing loss. In this report, we performed a clinical and genetic evaluation, and mitochondrial genome analysis of one hearing-impaired Chinese family carrying the A1555G mutation. Strikingly, the penetrances of hearing loss in this family, which were 81% and 66.7%, respectively, when...
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