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Article

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.

Human genetics - 1 Oct 1991

Carducci C, Leuzzi V, Scuderi M, De Negri A M, Gabrieli C B, Antonozzi I, Pontecorvi A

Abstract excerpt

Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with t...

Topics

Adolescent
Adult
Base Sequence
DNA, Mitochondrial
Female
Humans
Italy
Male
Molecular Sequence Data
Mutation
Optic Atrophies, Hereditary
Pedigree
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1937476
DOI: 10.1007/BF00201733

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1937476-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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