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Article

[Hearing loss and epilepsy may be associated with the novel mitochondrial tRNASer(UCN) 7472delC mutation in a Chinese family].

Yi chuan = Hereditas - 1 Dec 2008

Zhao Jian-Yue, Tang Xiao-Wen, Lan Jin-Shan, Lv Jian-Xin, Yang Li, Li Zhi-Yuan, Zhu Yi, Sun Dong-Mei, Yang Ai-Fen, Wang Jin-Dan, Xu Jing, Guan Min-Xin

Abstract excerpt

Mutations in mitochondrial DNA have been associated with a wide spectrum of clinical abnormalities. We reported here the clinical and genetic evaluations as well as mutational analysis of mitochondrial DNA(mtDNA) in a three-generation Chinese Han family with maternally transmitted hearing loss an...

Read the complete abstract on PubMed

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Source

Identifiers

PMID: 19073569
DOI: 10.3724/sp.j.1005.2008.01557

Genes

UCN
GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19073569-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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