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Article

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

Neurology - 22 Mar 2005

Kim J Y, Hwang J-M, Ko H S, Seong M-W, Park B-J, Park S S

Abstract excerpt

BACKGROUND: Autosomal dominant optic atrophy (ADOA) is the commonest form of inherited optic neuropathy. Mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein underlie ADOA and may perturb the biogenesis and maintenance of mitochondria. OBJECTIVE: To investigate the mutation spectrum of the OPA1 gene and assess alterations in mitochondrial content caused by OPA1 mutations. METHODS: Sixteen...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15781809
DOI: 10.1212/01.WNL.0000157282.76715.B1

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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