Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity.

The presence of more than one non-severe pathogenic mutation in the same mitochondrial DNA (mtDNA) molecule is very rare. Moreover, it is unclear whether their co-occurrence results in an additive impact on mitochondrial function relative to single mutation effects. Here we describe the first exampl...

Full description

Bibliographic Details
Main Authors: Alberto Cruz-Bermúdez, Ramiro J Vicente-Blanco, Rosana Hernández-Sierra, Mayte Montero, Javier Alvarez, Mar González Manrique, Alberto Blázquez, Miguel Angel Martín, Carmen Ayuso, Rafael Garesse, Miguel A Fernández-Moreno
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4718627?pdf=render