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Article

Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis.

Clinical genetics - 1 Feb 1993

Cavelier L, Gyllensten U, Dahl N

Abstract excerpt

Leber hereditary optic neuropathy (LHON) has been associated with a mitochondrial mutation at position 11,778 in the ND4 gene in about 50% of families. Individuals from six Swedish families with LHON were investigated for the presence of this mutation using allele-specific oligonucleotides and a sensitive chemoluminescent detection system. The point mutation was seen in mitochondrial DNA extracted from leukocytes...

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Source

Identifiers

PMID: 8448903
DOI: 10.1111/j.1399-0004.1993.tb04429.x

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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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Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis.PMID 8448903Read ↗

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

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