Article
Multiple mitochondrial tRNA(Leu[UUR]) mutations associated with infantile myopathy.
Molecular and cellular biochemistry - 1 Sept 1997
Zanssen S, Molnar M, Schröder J M, Buse G
Abstract excerpt
We have identified a cluster of mitochondrial tRNA(Leu[UUR]), mutations in a severe case of infantile myopathy. There were A to G transitions found at mtDNA positions 3259, 3261, 3266 and 3268. These point mutations change the anticodon arm and the anticodon UAA, normally found in tRNA(Leu[UUR]),...
Topics
- Animals
- Base Sequence
- Child, Preschool
- Female
- Humans
- Mitochondria, Muscle
- Mitochondrial Myopathies
- Molecular Sequence Data
- Mutation
- RNA
- RNA, Mitochondrial
- RNA, Transfer, Leu
- Sequence Alignment