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We report here the clinical, genetic and molecular characterization of three 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 relatives in these families. The penetrances of hearing loss in these pedigrees...
Mutations in mitochondrial DNA is one of the important causes of hearing loss. Here, we performed a mutational screening of tRNA Ser(UCN) gene in 1542 Chinese subjects with hearing loss. One subject and five subjects carried tRNA Ser(UCN) A7445C and G7444A mutations, respectively, while two subjects harbored both G7444A and 12S rRNA A1555G mutations. Clinical evaluation revealed the...
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