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Article

Pan-American mDNA haplogroups in Chilean patients with Leber's hereditary optic neuropathy.

Molecular vision - 1 Jan 2014

Romero Pablo, Fernández Verónica, Slabaugh Mark, Seleme Nicolás, Reyes Nury, Gallardo Patricia, Herrera Luisa, Peña Luis, Pezo Patricio, Moraga Mauricio

Abstract excerpt

PURPOSE: The clinical impact of mDNA mutations on the development of Leber hereditary optic neuropathy (LHON) may be modulated by mitochondrial haplogroups, which vary across populations. The aim of this research was to determine the clinical spectrum and molecular characteristics, including the haplogroup, of 15 South American families with LHON. METHODS: This study was a prospective, observational study...

Topics

Adolescent
Adult
Child
Child, Preschool
Chile
DNA, Mitochondrial
Female
Haplotypes
Humans
Male
Middle Aged
Optic Atrophy, Hereditary, Leber

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed Open full text

Identifiers

PMID: 24672219
PMCID: PMC3962688

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-24672219-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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