Article
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.
American journal of human genetics - 1 May 1992
Moraes C T, Ricci E, Bonilla E, DiMauro S, Schon E A
Abstract excerpt
Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) has recently been associated with an A----G transition at position 3243 within the mitochondrial tRNA(Leu(UUR)) gene. Besides altering the tRNA(Leu(UUR)) sequence, this point mutation lies within a DNA segment respo...
Topics
- Acidosis, Lactic
- Adult
- Cerebrovascular Disorders
- DNA, Mitochondrial
- Electron Transport Complex IV
- Female
- Gene Expression
- Humans
- Immunohistochemistry
- Male
- Mitochondria, Muscle
- Muscles
- Mutation
- Neuromuscular Diseases