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Article

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Human mutation - 1 Jul 2009

Ferré Marc, Bonneau Dominique, Milea Dan, Chevrollier Arnaud, Verny Christophe, Dollfus Hélène, Ayuso Carmen, Defoort Sabine, Vignal Catherine, Zanlonghi Xavier, Charlin Jean-Francois, Kaplan Josseline, Odent Sylvie, Hamel Christian P, Procaccio Vincent, Reynier Pascal, Amati-Bonneau Patrizia

Abstract excerpt

We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. All the patients were investigated for Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes, the two genes...

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Source

Identifiers

PMID: 19319978
DOI: 10.1002/humu.21025

Genes

OPA1
OPA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.PMID 19319978Read ↗

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