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  • Title: Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation.
    Author: Black GC, Craig IW, Oostra RJ, Norby S, Rosenberg T, Morten K, Laborde A, Poulton J.
    Journal: Eye (Lond); 1995; 9 ( Pt 4)():513-6. PubMed ID: 7498577.
    Abstract:
    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.
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