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Article

The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.

Journal of medical genetics - 1 Jul 2006

Valentino M L, Barboni P, Rengo C, Achilli A, Torroni A, Lodi R, Tonon C, Barbiroli B, Fortuna F, Montagna P, Baruzzi A, Carelli V

Abstract excerpt

BACKGROUND: Overlapping phenotypes including LHON, MELAS, and Leigh syndrome have recently been associated with numerous mtDNA point mutations in the ND5 gene of complex I, now considered a mutational hot spot. OBJECTIVE: To identify the mtDNA defect in a family with a prevalent ocular phenotype, including LHON-like optic neuropathy, retinopathy, and cataract, but characterised also by strokes, early deaths, and...

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Identifiers

PMID: 16816025
DOI: 10.1136/jmg.2005.037507
PMCID: PMC2564567

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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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