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Article

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

PloS one - 1 Jan 2023

Buonfiglio Paula I, Menazzi Sebastián, Francipane Liliana, Lotersztein Vanesa, Ferreiro Verónica, Elgoyhen Ana Belén, Dalamón Viviana

Abstract excerpt

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 established, due to the identification of disease-causing variants. A total of 54 variants were observed in a cohort of...

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Identifiers

PMID: 36827238
DOI: 10.1371/journal.pone.0275703
PMCID: PMC9956067

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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