Article
Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.
Cell - 13 Jul 1990
Shoubridge E A, Karpati G, Hastings K E
Abstract excerpt
We mapped the distribution and expression of wild-type and deleted mitochondrial DNA (mtDNA) molecules in skeletal muscle fibers of patients with mitochondrial disease. We show that ragged red fiber segments, which are characteristic histological features of these myopathies, represent focal accu...
Topics
- Base Sequence
- Brain Diseases
- Chromosome Deletion
- DNA, Mitochondrial
- Electron Transport Complex IV
- Gene Expression
- Humans
- Macromolecular Substances
- Mitochondria, Muscle
- Molecular Sequence Data
- Muscles
- Muscular Diseases
- Mutation
- NAD(P)H Dehydrogenase (Quinone)
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Quinone Reductases
- Reference Values