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Article

Extended screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.

Journal of human genetics - 1 Dec 2012

Kato Tomofumi, Nishigaki Yutaka, Noguchi Yoshihiro, Fuku Noriyuki, Ito Taku, Mikami Eri, Kitamura Ken, Tanaka Masashi

Abstract excerpt

Hearing loss (HL) is the most common sensory disorder in humans. Many patients with mitochondrial diseases have sensorineural HL (SNHL). The HL of these patients manifests as a consequence of either syndromic or nonsyndromic mitochondrial diseases. Furthermore, the phenotypes vary among patients...

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Identifiers

PMID: 22971729
DOI: 10.1038/jhg.2012.109

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22971729-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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