Article
Mitochondrial DNA diseases: histological and cellular studies.
Journal of bioenergetics and biomembranes - 1 Jun 1994
Shoubridge E A
Abstract excerpt
Large-scale deletions and tRNA point mutations in mitochondrial DNA (mtDNA) are associated with a variety of different mitochondrial encephalomyopathies. Skeletal muscle in these patients shows a typical pathology, characterized by the focal accumulation of large numbers of morphologically and biochemically abnormal mitochondrial (ragged-red fibers). Both mtDNA deletions and tRNA point mutations impair...
Topics
- DNA, Mitochondrial
- Gene Deletion
- Gene Expression
- Genotype
- Humans
- Mitochondria
- Mitochondrial Encephalomyopathies
- Muscles
- Phenotype
- Point Mutation
- RNA, Transfer