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Article

Costeff optic atrophy syndrome: new clinical case and novel molecular findings.

Journal of inherited metabolic disease - 1 Dec 2008

Ho G, Walter J H, Christodoulou J

Abstract excerpt

3-Methylglutaconic aciduria (MGA) encompasses a heterogeneous group of disorders, often coinciding with elevated levels of urinary 3-methylglutaric acid. Type I MGA is a disorder of leucine metabolism, while the biological basis for the MGA is unclear for the other types (MGA types II-V). MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501)...

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Source

Identifiers

PMID: 18985435
DOI: 10.1007/s10545-008-0981-z

Genes

MGA
OPA3

Variants

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.

Related research

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Costeff optic atrophy syndrome: new clinical case and novel molecular findings.PMID 18985435Read ↗

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

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A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.Semantic proximity Read ↗

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

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