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

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...

Full description

Bibliographic Details
Main Authors: Sonia Emperador, Mariona Vidal, Carmen Hernández-Ainsa, Cristina Ruiz-Ruiz, Daniel Woods, Ana Morales-Becerra, Jorge Arruga, Rafael Artuch, Ester López-Gallardo, M. Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-02-01
Series:Frontiers in Neuroscience
Subjects:
LHON
childhood-onset disease
visual recovery
mtDNA
heteroplasmic mutation
Online Access:http://journal.frontiersin.org/article/10.3389/fnins.2018.00061/full

Internet

http://journal.frontiersin.org/article/10.3389/fnins.2018.00061/full

Similar Items