Article
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.
Cell - 15 Jun 1990
Shoffner J M, Lott M T, Lezza A M, Seibel P, Ballinger S W, Wallace D C
Abstract excerpt
An A to G transition mutation at nucleotide pair 8344 in human mitochondrial DNA (mtDNA) has been identified as the cause of MERRF. The mutation alters the T psi C loop of the tRNA(Lys) gene and creates a CviJI restriction site, providing a simple molecular diagnostic test for the disease. This m...
Topics
- Adenine
- Base Sequence
- DNA, Mitochondrial
- Epilepsies, Myoclonic
- Female
- Guanine
- Humans
- Male
- Mitochondria, Muscle
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation