The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

The onset of Leber hereditary optic neuropathy is relatively rare in childhood and, interestingly, the rate of spontaneous visual recovery is very high in this group of patients. Here, we report a child harboring a rare pathological mitochondrial DNA mutation, present in heteroplasmy, associated wit...

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Detalles Bibliográficos
Autores principales: Emperador, Sonia, Vidal, Mariona, Hernández-Ainsa, Carmen, Ruiz-Ruiz, Cristina, Woods, Daniel, Morales-Becerra, Ana, Arruga, Jorge, Artuch, Rafael, López-Gallardo, Ester, Bayona-Bafaluy, M. Pilar, Montoya, Julio, Ruiz-Pesini, Eduardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811516/
https://www.ncbi.nlm.nih.gov/pubmed/29479304
http://dx.doi.org/10.3389/fnins.2018.00061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811516/
https://www.ncbi.nlm.nih.gov/pubmed/29479304
http://dx.doi.org/10.3389/fnins.2018.00061

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