Article
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.
Gene - 15 May 2007
Tang Xiaowen, Yang Li, Zhu Yi, Liao Zhisu, Wang Jindan, Qian Yaping, Tao Zhihua, Hu Lenong, Wu Guomin, Lan Jinshan, Wang Xinjian, Ji Jingzhang, Wu Jian, Ji Yu, Feng Jinbao, Chen Jianfu, Li Zhiyuan, Zhang Xue, Lu Jianxin, Guan Min-Xin
Abstract excerpt
Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic and molecular characterizations of seven Han Chinese pedigrees with aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the variable phenotype of hearing impairment including severity, age-at-onset and audiometric configuration in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
