Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)

The present study investigates the spectrum and analysis of mitochondrial DNA (mtDNA) variants associated with Leber hereditary optic neuropathy (LHON) in an Argentinean cohort, analyzing 3 LHON-associated mitochondrial genes. In 32% of the cases, molecular confirmation of the diagnosis could be est...

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Detalles Bibliográficos
Autores principales: Buonfiglio, Paula I., Menazzi, Sebastián, Francipane, Liliana, Lotersztein, Vanesa, Ferreiro, Verónica, Elgoyhen, Ana Belén, Dalamón, Viviana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956067/
https://www.ncbi.nlm.nih.gov/pubmed/36827238
http://dx.doi.org/10.1371/journal.pone.0275703

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