Article
Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.
Journal of medical genetics - 1 Oct 2011
Yan Xukun, Wang Xinjian, Wang Zhengmin, Sun Shan, Chen Guoling, He Yingzi, Mo Jun Qin, Li Ronghua, Jiang Pingping, Lin Qin, Sun Mingzhi, Li Wen, Bai Yan, Zhang Jianning, Zhu Yi, Lu Jianxin, Yan Qingfeng, Li Huawei, Guan Min-Xin
Abstract excerpt
The authors report here the clinical, genetic, molecular and biochemical characterisation of a large five-generation Han Chinese pedigree with maternally transmitted non-syndromic hearing loss. 17 of 35 matrilineal relatives exhibited variable severity and age at onset of sensorineural hearing loss. The average age at onset of hearing loss in matrilineal relatives of this family is 29 years, while matrilineal...
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