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Article

OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.

Journal of inherited metabolic disease - 1 Jan 2005

Neas K, Bennetts B, Carpenter K, White R, Kirk E P, Wilson M, Kelley R, Baric I, Christodoulou J

Abstract excerpt

We have screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of Costeff syndrome (optic atrophy, chorea and spasticity; type III 3MGA). We aimed to explore whether mutations in the OPA3 gene are present in patients with 3MGA but without classic Costeff syndrome. OPA3 mutations (IVS1-1G>C) were identified in 2...

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Identifiers

PMID: 15902555
DOI: 10.1007/s10545-005-0525-8

Genes

OPA3

Variants

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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.

Related research

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Research trail→

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OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.PMID 15902555Read ↗

Costeff optic atrophy syndrome: new clinical case and novel molecular findings.Semantic proximity Read ↗

Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.Semantic proximity Read ↗

A missense mutation in the murine Opa3 gene models human Costeff syndrome.Semantic proximity Read ↗

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.Semantic proximity Read ↗

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.Semantic proximity Read ↗

Neuro-Ophthalmic Phenotype of OPA3.Semantic proximity Read ↗

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.Semantic proximity Read ↗

[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor].Semantic proximity Read ↗

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

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