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Article

Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family.

Biochemical and biophysical research communications - 4 Mar 2005

Li Ronghua, Ishikawa Kotaro, Deng Jian-Hong, Heman-Ackah Selena, Tamagawa Yuya, Yang Li, Bai Yidong, Ichimura Keiichi, Guan Min-Xin

Abstract excerpt

We report here the characterization of a Japanese family with maternally transmitted nonsyndromic hearing loss. Fourteen of 21 matrilineal relatives in this family exhibited early or late-onset/progressive but noncongenital hearing impairment with a wide range of severity, ranging from severe to normal hearing. The age-of-onset varies from 3 to 30 years. Sequence analysis of the complete mitochondrial genome in...

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Source

Identifiers

PMID: 15670746
DOI: 10.1016/j.bbrc.2004.12.140

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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