Article
Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss.
Biochemical and biophysical research communications - 12 Oct 2007
Yuan Huijun, Chen Jing, Liu Xin, Cheng Jing, Wang Xinjian, Yang Li, Yang Shuzhi, Cao Juyang, Kang Dongyang, Dai Pu, Zhai Suoqiang, Han Dongyi, Young Wie-Yen, Guan Min-Xin
Abstract excerpt
Mutations in mitochondrial DNA are one of the important causes of hearing loss. We report here the clinical, genetic, and molecular characterization of two Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset, and audiometric configuration of hearing impairment in matrilineal...
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