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Article

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

American journal of human genetics - 1 Nov 1991

Howell N, Bindoff L A, McCullough D A, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull D M

Abstract excerpt

Biochemical and molecular genetic evidence is presented that in six independent pedigrees the development of Leber hereditary optic neuropathy (LHON) is due to the same primary mutation in the mitochondrial ND1 gene. A LHON family from the Newcastle area of Great Britain was analyzed in depth to determine the mitochondrial genetic etiology of their disease. Biochemical assays of mitochondrial electron transport...

Topics

Amino Acid Sequence
Cloning, Molecular
Female
Humans
Male
Mitochondria
Molecular Sequence Data
Mutation
NAD(P)H Dehydrogenase (Quinone)
NADH, NADPH Oxidoreductases
Optic Atrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1928099
PMCID: PMC1683233

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1928099-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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