Article
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation.
Neurology - 1 Mar 1992
Goto Y, Horai S, Matsuoka T, Koga Y, Nihei K, Kobayashi M, Nonaka I
Abstract excerpt
We studied 40 MELAS patients (21 male and 19 female) to characterize the clinical features and biochemical and muscle biopsy findings related to the mtDNA mutation at the nucleotide position of 3,243, the most common genetic defect in MELAS. The most frequent symptom was episodic sudden headache with vomiting and convulsions, which commonly affected patients aged 5 to 15 years (80%). Biochemical defects in the...
Topics
- Acidosis, Lactic
- Brain Diseases
- Cerebrovascular Disorders
- DNA, Mitochondrial
- Female
- Humans
- Male
- Mitochondria, Muscle
- Muscular Diseases
- Mutation
- Oxidoreductases