Yannick Nochez Sophie Arsene Naig Gueguen Arnaud Chevrollier Marc Ferré Virginie Guillet Valérie Desquiret Annick Toutain Dominique Bonneau Vincent Procaccio Patrizia Amati-Bonneau Pierre-Jean Pisella Pascal Reynier
Mol Vis
2009;15:598-608.
CC BY
https://pubmed.ncbi.nlm.nih.gov/19325939/
DNA, Mitochondrial / analysis GTP Phosphohydrolases / genetics Mitochondrial Diseases / complications Mitochondrial Diseases / genetics Mutation, Missense Optic Atrophy / etiology Optic Atrophy / genetics
DNA, Mitochondrial / analysis GTP Phosphohydrolases / genetics Mitochondrial Diseases / complications Mitochondrial Diseases / genetics Mutation, Missense Optic Atrophy / etiology Optic Atrophy / genetics Case Reports Research Support, Non-U.S. Gov't Electroretinography Female GTP Phosphohydrolases / biosynthesis Humans Magnetic Resonance Imaging Middle Aged Mitochondrial Diseases / physiopathology Optic Atrophy / physiopathology Sequence Analysis, DNA Vision, Low DNA, Mitochondrial GTP Phosphohydrolases OPA1 protein, human
PMC2661005
19325939
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect
2009