Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants

Leber's hereditary optic neuropathy (LHON) is due to missense point mutations affecting mitochondrial DNA (mtDNA); 90% of cases harbor the m.3460G>A, m.11778G>A, and m.14484T>C primary mutations. Here, we report and discuss five families with patients affected by symptomatic LHON, in w...

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Detalles Bibliográficos
Autores principales: Peverelli, Lorenzo, Catania, Alessia, Marchet, Silvia, Ciasca, Paola, Cammarata, Gabriella, Melzi, Lisa, Bellino, Antonella, Fancellu, Roberto, Lamantea, Eleonora, Capristo, Mariantonietta, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Ghezzi, Daniele, Bianchi Marzoli, Stefania, Lamperti, Costanza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220086/
https://www.ncbi.nlm.nih.gov/pubmed/34177762
http://dx.doi.org/10.3389/fneur.2021.657317

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