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Article

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

Molecular genetics and metabolism - 1 Feb 2002

Delettre Cécile, Lenaers Guy, Pelloquin Laeticia, Belenguer Pascale, Hamel Christian P

Abstract excerpt

Dominant optic atrophy (DOA) is the most common form of inherited optic neuropathy. Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the responsible gene, OPA1, was recently identified. OPA1 is a mitochondrial dynamin-related GTPase implicated in the formation and maintenance of the mitochondrial network. To date, 62 mutations have been identified in a total of 201 DOA patients. Most...

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Share to Chromosomes, Human, Pair 3
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11855928
DOI: 10.1006/mgme.2001.3278

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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