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Article

[An analysis of 6 Leber mutations in 31 individuals with optic atrophy. A study of its transmission in 5 families].

Medicina clinica - 13 Mar 1999

Gómez Zaera M, Barrientos A, Arias L, Rojas I, Arruga J, Estivill X, Casademont J, Nunes V

Abstract excerpt

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder that represents the most frequent cause of visual loss among otherwise healthy young men. PATIENTS AND METHODS: We have screened for the most important LHON mutations (primary mutations) and several other previously described mutations (secondary mutations) in 31 Spanish patients suffering from optic atrophy. These individuals...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10220763

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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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