Article
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
Biochimica et biophysica acta - 21 Oct 1991
Goto Y, Nonaka I, Horai S
Abstract excerpt
In 3 of 40 MELAS patients, a new common mutation, a T-to-C transition at nucleotide position 3271 in the mitochondrial tRNA(Leu(UUR] gene was recognized and was very near to the most common mutation site at 3243. With a simple detection method using polymerase chain reaction with a mismatch primer, none of 46 patients with other mitochondrial diseases and 50 controls had this mutation.
Topics
- Acidosis, Lactic
- Base Sequence
- Brain Diseases
- Cerebrovascular Disorders
- DNA, Mitochondrial
- Humans
- Molecular Sequence Data
- Muscular Diseases
- Mutation
- Nucleic Acid Conformation
- Oligodeoxyribonucleotides