Article
Leber's hereditary optic neuropathy and Kearns-Sayre syndrome: mitochondrial DNA mutations.
Survey of ophthalmology - 1 Jan 2000
Phillips C I, Gosden C M
Abstract excerpt
Mitochondrial DNA (mt DNA) supplies extranuclear (cytoplasmic) genes which program the manufacture of 13 of the 67 peptides of the mitochondrial respiratory enzymes. The remaining 54 are coded by nuclear DNA. All human children and adults, male and female, are entirely dependent on the cytoplasm of the ovum for their complement of mt DNA; the sperm contributes none. Accordingly, mutations in the mt DNA in a...
Topics
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- DNA, Mitochondrial
- Genetic Counseling
- Humans
- Kearns-Sayre Syndrome
- Molecular Biology
- Mutation
- Optic Atrophies, Hereditary
- Pedigree