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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Molecular Vision 2009
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2661005/
https://ncbi.nlm.nih.gov/pubmed/19325939
Tagiau: Ychwanegu Tag
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