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Mitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy
Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells of the optic nerve. Around 60% of ADOA cases are linked to mutations in the OPA1 gene. OPA1 is a fission-fusion protein involved in mitochon...
Autores principales: | Van Bergen, Nicole J., Crowston, Jonathan G., Kearns, Lisa S., Staffieri, Sandra E., Hewitt, Alex W., Cohn, Amy C., Mackey, David A., Trounce, Ian A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3120866/ https://www.ncbi.nlm.nih.gov/pubmed/21731710 http://dx.doi.org/10.1371/journal.pone.0021347 |
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