Article
Searching for genes affecting the structural integrity of the mitochondrial genome.
Biochimica et biophysica acta - 24 May 1995
Zeviani M, Amati P, Comi G, Fratta G, Mariotti C, Tiranti V
Abstract excerpt
Mendelian traits associated with qualitative or quantitative abnormalities of mtDNA are presumably caused by mutations in nucleus-encoded genes that deleteriously interact with the mitochondrial genome. Qualitative abnormalities of mtDNA are typically represented by pleioplasmic multiple mtDNA deletions, that are detected in stable tissues, including skeletal muscle, of patients affected by Autosomal Dominant...
Topics
- Animals
- Child
- DNA, Mitochondrial
- Gene Deletion
- Genes
- Genes, Dominant
- Genetic Linkage
- Genome
- Humans
- Infant
- Muscle, Skeletal
- Mutation