Article
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.
American journal of ophthalmology - 15 Jun 1991
Newman N J, Lott M T, Wallace D C
Abstract excerpt
In a study of the phenotypic characteristics of pedigrees of Leber's hereditary optic neuropathy positive for the mitochondrial DNA mutation at position 11778, 28 of 49 pedigrees were represented by singleton cases. Seven families, including six singleton pedigrees, had maternal family members with a mixture of mutant and normal mitochondrial DNA (heteroplasmy). Seventy-two affected individuals from 43 families...
Topics
- Adolescent
- Adult
- Age Factors
- Child
- DNA, Mitochondrial
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Optic Atrophies, Hereditary
- Pedigree