Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

PURPOSE: Autosomal dominant optic atrophy (ADOA, OMIM 165500), an inherited optic neuropathy that leads to retinal ganglion cell degeneration and reduced visual acuity during the early decades of life, is mainly associated with mutations in the OPA1 gene. Here we report a novel ADOA phenotype associ...

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Bibliografische gegevens
Hoofdauteurs: Nochez, Yannick, Arsene, Sophie, Gueguen, Naig, Chevrollier, Arnaud, Ferré, Marc, Guillet, Virginie, Desquiret, Valérie, Toutain, Annick, Bonneau, Dominique, Procaccio, Vincent, Amati-Bonneau, Patrizia, Pisella, Pierre-Jean, Reynier, Pascal
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Molecular Vision 2009
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2661005/
https://ncbi.nlm.nih.gov/pubmed/19325939
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