Article
Heteroplasmy in Leber's hereditary optic neuropathy.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1993
Smith K H, Johns D R, Heher K L, Miller N R
Abstract excerpt
OBJECTIVES: To determine the incidence and clinical significance of peripheral blood heteroplasmy and the presence of normal and mutant mitochondrial DNA in Leber's hereditary optic neuropathy through evaluation of a large series of families with the 11778 mutation and to evaluate the pattern of...
Topics
- Adolescent
- Adult
- Child
- DNA Mutational Analysis
- DNA, Mitochondrial
- Electrophoresis, Agar Gel
- Female
- Genotype
- Humans
- Incidence
- Male
- Middle Aged
- Optic Atrophies, Hereditary
- Pedigree
- Polymerase Chain Reaction