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Article

Leber's hereditary optic neuropathy: clinical and molecular profile of a Brazilian sample.

Ophthalmic genetics - 1 Sept 2010

Maciel-Guerra Andréa Trevas, Zanchetta Luciene Maria, Amaral Fernandes Marcela Scabello, Andrade Paula Baloni, do Amor Divino Miranda Paulo Maurício, Sartorato Edi Lúcia

Abstract excerpt

PURPOSE: The aim of this study was to describe clinical features and search for primary mitochondrial DNA (mtDNA) mutations in 13 unrelated Brazilian patients with Leber's hereditary optic neuropathy (LHON). METHODS: Analysis of the G11778A, G3460A, and T14484C mutations was done by polymerase chain reaction and restriction fragment length polymorphism, and mutations were confirmed by direct sequencing. Mean age...

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Identifiers

PMID: 20565249
DOI: 10.3109/13816810.2010.483721

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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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