Article
Disease-related versus polymorphic mutations in human mitochondrial tRNAs. Where is the difference?
EMBO reports - 1 Jun 2001
Florentz C, Sissler M
Abstract excerpt
A number of point mutations in human mitochondrial (mt) tRNA genes are correlated with a variety of neuromuscular and other severe disorders including encephalopathies, myopathies, cardiopathies and diabetes. The complexity of the genotype/phenotype relationships, the diversity of possible molecular impacts of the different mutations at the tRNA structure/function levels, and the exponential discovery of new...
Topics
- Genotype
- Humans
- Mutation
- Nucleic Acid Conformation
- Phenotype
- Point Mutation
- Polymorphism, Genetic
- RNA
- RNA, Mitochondrial
- RNA, Transfer
- Structure-Activity Relationship