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Article

Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families.

Biochemical and biophysical research communications - 15 Sept 2006

Dai Pu, Yuan Yongyi, Huang Deliang, Qian Yaping, Liu Xin, Han Dongyi, Yuan Huijun, Wang Xinjiang, Young Wie-Yen, 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 characterization of three Chinese pedigrees (a total of 43 matrilineal relatives) with aminoglycoside-induced impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although...

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Identifiers

PMID: 16875663
DOI: 10.1016/j.bbrc.2006.07.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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