Article
Mitochondrial biogenesis defects and neuromuscular disorders.
Pediatric neurology - 1 Feb 2000
Marin-Garcia J, Goldenthal M J
Abstract excerpt
A variety of mitochondrial DNA (mtDNA) defects, ranging from point mutations and large-scale deletions to severe reduction in the overall quantity of mtDNA (mtDNA depletion), may be associated with neuromuscular disorders. The nuclear genome, which encodes most of the proteins involved in mitochondrial biogenesis (regulation of maintenance, replication, and transcription of mtDNA), appears to be implicated in...
Topics
- Animals
- DNA Mutational Analysis
- DNA, Mitochondrial
- Disease Models, Animal
- Humans
- Mitochondrial Myopathies
- Mutation
- Neuromuscular Diseases
- Point Mutation
- Sequence Deletion
- Transcription, Genetic