Article
A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies.
Biochemical and biophysical research communications - 29 Apr 1994
Seibel P, Flierl A, Kottlors M, Reichmann H
Abstract excerpt
Alterations of the mitochondrial DNA, encoding important parts of the cellular energy-generating system (oxidative phosphorylation, OXPHOS), are often associated with the occurrence of degenerative neuromuscular diseases. Especially point mutations in the mitochondrial tRNA genes, which cannot be...
Topics
- Alleles
- Base Sequence
- DNA
- DNA Mutational Analysis
- DNA, Mitochondrial
- Evaluation Studies as Topic
- Humans
- MELAS Syndrome
- MERRF Syndrome
- Mitochondrial Encephalomyopathies
- Molecular Sequence Data
- Optic Atrophies, Hereditary
- Oxidative Phosphorylation
- Point Mutation
- Polymerase Chain Reaction
- RNA, Transfer, Leu