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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 the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease...

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PMID: 1937476
DOI: 10.1007/BF00201733

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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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