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Article

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

Annals of neurology - 1 Dec 2005

Amati-Bonneau Patrizia, Guichet Agnès, Olichon Aurélien, Chevrollier Arnaud, Viala Frédérique, Miot Stéphanie, Ayuso Carmen, Odent Sylvie, Arrouet Catherine, Verny Christophe, Calmels Marie-Noelle, Simard Gilles, Belenguer Pascale, Wang Jing, Puel Jean-Luc, Hamel Christian, Malthièry Yves, Bonneau Dominique, Lenaers Guy, Reynier Pascal

Abstract excerpt

The heterozygous R445H mutation in OPA1 was found in five patients with optic atrophy and deafness. Audiometry suggested that the sensorineural deafness resulted from auditory neuropathy. Skin fibroblasts showed hyperfragmentation of the mitochondrial network, decreased mitochondrial membrane potential, and adenosine triphosphate synthesis defect. In addition, OPA1 was found to be widely expressed in the sensory...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16240368
DOI: 10.1002/ana.20681

Genes

OPA1

Variants

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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