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Article

A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family.

Biochemical and biophysical research communications - 15 Jul 2005

Zhadanov Sergey I, Atamanov Vasily V, Zhadanov Nikolay I, Oleinikov Oleg V, Osipova Ludmila P, Schurr Theodore G

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a frequent cause of inherited blindness. A routine screening for common mtDNA mutations constitutes an important first in its diagnosis. However, a substantial number of LHON patients do not harbor known variants, both pointing to the genetic heterogeneity of LHON and bringing into question its genetic diagnosis. We report a familial case that exhibited typical...

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

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Identifiers

PMID: 15922297
DOI: 10.1016/j.bbrc.2005.05.059

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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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