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Article

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

Biochemical and biophysical research communications - 14 Feb 1991

Johns D R, Berman J

Abstract excerpt

Leber's hereditary optic neuropathy has been linked to a mitochondrial DNA mutation at position 11,778 in the ND-4 gene in 50% of families. Three alternative mutations in Complex I genes at positions 4,216 (ND-1), 4,917 (ND-2), and 13,708 (ND-5) were discovered in 11,778- Leber families. The 4,917 and 13,708 mutations appear pathogenetically significant and were observed in 36% (4,917 mutation) and 43% (13,708...

Topics

Amino Acid Sequence
Animals
Base Sequence
Biological Evolution
DNA, Mitochondrial
Female
Genes
Humans
Molecular Sequence Data
Mutation
NAD(P)H Dehydrogenase (Quinone)

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Optic Atrophies, Hereditary

Polymerase Chain Reaction

Quinone Reductases

RNA Splicing

Restriction Mapping

Source

Identifiers

PMID: 1900003
DOI: 10.1016/0006-291x(91)91567-v

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1900003-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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