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Article

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.

Human mutation - 1 Jan 1997

Juvonen V, Nikoskelainen E, Lamminen T, Penttinen M, Aula P, Savontaus M L

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutation at position 11778, 3460, or 14484. Approximately 14% of families show heteroplasmy for the pathogenic mutations but little is known about the mutational...

Topics

DNA, Mitochondrial
Female
Humans
Male
Mutation
Optic Atrophies, Hereditary
Pedigree

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9143920
DOI: 10.1002/(SICI)1098-1004(1997)9:5<412::AID-HUMU6>3.0.CO;2-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9143920-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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