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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2661005/
https://www.ncbi.nlm.nih.gov/pubmed/19325939

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2661005/
https://www.ncbi.nlm.nih.gov/pubmed/19325939

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