Article
[MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993
Goto Y
Abstract excerpt
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is one of the clinically-defined mitochondrial diseases, characterized by early onset and stroke-like symptoms. A point mutation at nucleotide pair 3243 within the tRNA-Leu (UUR) gene is found in 80% of MELA...
Topics
- Adolescent
- Base Sequence
- Child
- Child, Preschool
- DNA, Mitochondrial
- Humans
- Infant
- MELAS Syndrome
- Molecular Sequence Data
- Mutation
- Phenotype
- RNA, Transfer, Leu
- Transcription, Genetic
