Article
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.
Muscle & nerve. Supplement - 1 Jan 1995
Moraes C T, Sciacco M, Ricci E, Tengan C H, Hao H, Bonilla E, Schon E A, DiMauro S
Abstract excerpt
Large-scale deletions of mitochondrial DNA (mtDNA) have been associated with a subgroup of mitochondrial encephalomyopathies, usually characterized by progressive external ophthalmoplegia (PEO) and mitochondrial proliferation in muscle fibers. We and others have shown that muscle from patients wi...
Topics
- Chromosome Deletion
- Cytochrome-c Oxidase Deficiency
- DNA, Mitochondrial
- Genotype
- Humans
- In Situ Hybridization
- Muscular Diseases
- Phenotype
- Polymerase Chain Reaction