Article
Mitochondrial DNA deletions in mitochondrial cytopathies: observations in 19 patients.
Neurology - 1 Nov 1991
Yamamoto M, Clemens P R, Engel A G
Abstract excerpt
Among 56 patients with mitochondrial myopathies or cytopathies, 19 had large-scale deletions of mitochondrial DNA (mtDNA). Consistent with previous observations, all 19 had progressive external ophthalmoplegia and 12 had complete or partial Kearns-Sayre syndrome. One of two patients in whom mitochondrial rather than whole muscle DNA was analyzed had multiple populations of deleted mtDNA (dmtDNA). In all patients,...
Topics
- Adolescent
- Adult
- Blotting, Southern
- Child
- Child, Preschool
- DNA, Mitochondrial
- Humans
- Middle Aged
- Mitochondria, Muscle
- Muscular Diseases
- Phenotype
- Polymorphism, Restriction Fragment Length