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

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 symptomati...

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Bibliographic Details
Main Authors: Lorenzo Peverelli, Alessia Catania, Silvia Marchet, Paola Ciasca, Gabriella Cammarata, Lisa Melzi, Antonella Bellino, Roberto Fancellu, Eleonora Lamantea, Mariantonietta Capristo, Leonardo Caporali, Chiara La Morgia, Valerio Carelli, Daniele Ghezzi, Stefania Bianchi Marzoli, Costanza Lamperti
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Neurology
Subjects:
Leber optic atrophy
mitochondrial respiratory chain
complex I
LHON
transmitochondrial cybrids
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.657317/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.657317/full

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