Article
A mitochondrial tRNA anticodon swap associated with a muscle disease.
Nature genetics - 1 Jul 1993
Moraes C T, Ciacci F, Bonilla E, Ionasescu V, Schon E A, DiMauro S
Abstract excerpt
We have identified an unusual mitochondrial (mt) tRNA mutation in a seven year-old girl with a pure myopathy. This G to A transition at mtDNA position 15990 changed the anticodon normally found in proline tRNAs (UGG) to the one found in serine tRNAs (UGA), and is the first pathogenic anticodon alteration described in a higher eukaryote. The mutant mtDNA was heteroplasmic (85% mutant) in muscle but was...
Topics
- Anticodon
- Base Sequence
- Child
- DNA, Mitochondrial
- Female
- Humans
- Mitochondrial Myopathies
- Molecular Sequence Data
- Muscle Proteins
- Muscles
- Pedigree
- Phenotype