Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

Article

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

American journal of human genetics - 1 Jul 1995

Harding A E, Sweeney M G, Govan G G, Riordan-Eva P

Abstract excerpt

Eighty-nine index patients from 85 families were defined as having Leber hereditary optic neuropathy (LHON) by the presence of one of the mtDNA mutations at positions 11778 (66 families), 3460 (8 families), or 14484 (11 families). There were 62 secondary cases. Overall, 64% of index cases had a h...

Topics

Adolescent
Adult
Age of Onset
Child
Child, Preschool
DNA, Mitochondrial
Female
Genetic Linkage
Heterozygote
Humans
Infant
Male
Middle Aged
Mutation
Optic Atrophies, Hereditary
Pedigree
Risk Factors
X Chromosome

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