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Article

Leber hereditary optic neuropathy due to a new ND1 mutation.

Ophthalmic genetics - 1 Jan 2000

Soldath Patrick, Wegener Marianne, Sander Birgit, Rosenberg Thomas, Duno Morten, Wibrand Flemming, Vissing John

Abstract excerpt

We report a proband with Leber hereditary optic neuropathy (LHON), in whom we have identified a novel homoplasmic m.3,395A>G mutation in the ND1 gene. The mutation alters a highly conserved amino acid in codon 30 which previously has been associated with LHON and leads to a severe selective complex I deficiency. By providing further evidence for pathogenicity we conclude that m.3,395A>G is pathogenic. High...

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Source

Identifiers

PMID: 28139165
DOI: 10.1080/13816810.2016.1253108

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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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