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Article

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals.

Brain research - 1 Dec 2009

Huang Taosheng, Santarelli Rosamaria, Starr Arnold

Abstract excerpt

Autosomal dominant optic atrophy (DOA) is a retinal neuronal degenerative disease characterized by a progressive bilateral visual loss. We report on two affected members of a family with dominantly inherited neuropathy of both optic and auditory nerves expressed by impaired visual acuity, moderate pure tone hearing loss, and marked loss of speech perception. We investigated cochlear abnormalities accompanying the...

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Source

Identifiers

PMID: 19733158
DOI: 10.1016/j.brainres.2009.08.083

Genes

OPA1

Provenance

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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