Cargando…
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...
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: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2661005/ https://www.ncbi.nlm.nih.gov/pubmed/19325939 |
Ejemplares similares
-
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy
por: Kane, Mariame Selma, et al.
Publicado: (2017) -
Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration
por: Angebault, Claire, et al.
Publicado: (2011) -
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy
por: Charif, Majida, et al.
Publicado: (2022) -
OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background
por: Pierron, Denis, et al.
Publicado: (2009) -
Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia
por: Bris, Celine, et al.
Publicado: (2017)