Cinzia Bocca, Victor Le Paih, Juan Manuel Chao de la Barca, Judith Kouassi Nzoughet, Patrizia Amati‐Bonneau, Odile Blanchet, Benoît Védie, Daniela Géromin, Gilles Simard, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Christophe Orssaud, Pascal Reynier,
Abstract Leber’s hereditary optic neuropathy (LHON) is the most common disorder due to mitochondrial DNA mutations and complex I deficiency. It is characterized by an acute vision loss, generally in young adults, with a higher penetrance in males. How complex I dysfunction induces the peculiar LHON clinical presentation remains an unanswered question. To gain an insight into this question, we carried out a non-targeted metabolomic investigation using the plasma of 18 LHON patients, during the chronic ...
Tópico(s): Metabolism and Genetic Disorders
2021 - Oxford University Press | Human Molecular Genetics