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Article

Clinical characteristics and hearing impairment in carriers of the m.3243 A > G variant.

Journal of human genetics - 1 Mar 2026

Uehara Natsumi, Fujita Takeshi, Uehara Keiichiro, Shimoda Hikari, Yamashita Daisuke, Yokoi Jun, Katsunuma Sayaka, Kakigi Akinobu, Nibu Ken-Ichi

Abstract excerpt

The m.3243 A > G mitochondrial DNA variant is a major pathogenic variant associated with various clinical phenotypes, including hearing impairment and diabetes. This study retrospectively analyzed clinical data from 37 patients with the m.3243 A > G variant to clarify the relationship between clinical characteristics and hearing loss. Most patients developed post-lingual, late-onset sensorineural hearing loss...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41131326
DOI: 10.1038/s10038-025-01412-3
PMCID: PMC12948675

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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