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OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT

Known as: Opa3, Autosomal Dominant, OPA3, Optic Atrophy 3, Autosomal Dominant 
National Institutes of Health

Related topics

Related topics

5 relations
Autosomal dominant inheritanceOPA3 geneOptic Atrophy

Broader (2)

CataractOptic Atrophies, Hereditary

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
237 SLC25A46 mutations cause a spectrum of disorders including CMT2 with optic atrophy
Case A 20-year-old female had symptom onset age 7 of bilateral foot drop and distal lower limb atrophy. Nerve conduction studies… 
2018
2018
HTRA2 Defect: a Recognizable Inborn Error of Metabolism
2013
2013
First Cases of Dominant Optic Atrophy in Saudi Arabia: Report of Two Novel OPA1 Mutations
Background: Fifty to 60% of patients with dominant optic atrophy (DOA) have mutations of the OPA1 gene, which encodes dynamin… 
2013
2013
OPA3 IS AN INNER MITOCHONDRIAL MEMBRANE PROTEIN INVOLVED IN MITOCHONDRIAL DYNAMICS REGULATION
2010
2010
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
2008
2008
3-Methylglutaconic aciduria type III: Insights into the OPA3 protein.
2008
2008
Testing and counselling in inherited optic neuropathies
Purpose Inherited optic neuropathies are a diverse group of conditions presenting with mild to severe visual loss, colour vision… 
2007
2007
M - 20 Corrélations phénotype génotype des neuropathies optiques mitochondriales
2005
2005
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria
SummaryWe have screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the… 
2005
2005
Atrophie optique, cataracte et signes extra-pyramidaux par mutation du gène OPA3
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