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Leber's hereditary optic neuropathy (LHON), which is associated with mutations in mitochondrial DNA (mtDNA), is commoner in males than females. A study of over 30 LHON families with a mutation at position 3460 of mtDNA demonstrates a significantly decreased male excess from that generally quoted, with evidence for a marked bias in the ascertainment of males over females. This has implications for the analysis of those factors which give rise to the male bias.

Original publication

DOI

10.1038/eye.1995.117

Type

Journal article

Journal

Eye (Lond)

Publication Date

1995

Volume

9 ( Pt 4)

Pages

513 - 516

Keywords

Adult, Aged, Bias, DNA Mutational Analysis, DNA, Mitochondrial, Female, Genetic Linkage, Humans, Male, Middle Aged, Optic Atrophies, Hereditary, Pedigree, Point Mutation, Sex Factors