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Article

Reversible optic neuropathy with OPA1 exon 5b mutation.

Annals of neurology - 1 May 2008

Cornille Karen, Milea Dan, Amati-Bonneau Patrizia, Procaccio Vincent, Zazoun Lydie, Guillet Virginie, El Achouri Ghizlane, Delettre Cécile, Gueguen Naïg, Loiseau Dominique, Muller Agnès, Ferré Marc, Chevrollier Arnaud, Wallace Douglas C, Bonneau Dominique, Hamel Christian, Reynier Pascal, Lenaers Guy

Abstract excerpt

A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network...

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Identifiers

PMID: 18360822
DOI: 10.1002/ana.21376

Genes

OPA1

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18360822-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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