Article
Diseases resulting from mitochondrial DNA point mutations.
Journal of inherited metabolic disease - 1 Jan 1992
Wallace D C, Lott M T, Shoffner J M, Brown M D
Abstract excerpt
A number of mitochondrial DNA (mtDNA) mutations have been identified which cause familial, late onset neuromuscular degenerative diseases. These include missense mutations in most of the mtDNA polypeptide genes as well as base substitutions in several tRNA genes. Missense mutations in the mitocho...
Topics
- Base Sequence
- DNA, Mitochondrial
- Genetic Diseases, Inborn
- Humans
- Molecular Sequence Data
- Mutation
- Oxidative Phosphorylation
- RNA, Transfer