Article
["MELAS" (A3243G) mutation of mitochondrial DNA: a study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data].
Revue neurologique - 1 Dec 2000
Laforêt P, Ziegler F, Sternberg D, Rouche A, Frachon P, Fardeau M, Eymard B, Lombès A
Abstract excerpt
Nineteen patients were found to harbor the mitochondrial DNA A3243G mutation associated with MELAS syndrome (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes). Eight of them had presented with stroke-like episodes and therefore had a clinical diagnosis of MELAS syndrome. The other 11 patients had no strokes and presented with generally less severe multisystemic disease. In the two...
Topics
- Adult
- Child
- DNA, Mitochondrial
- DNA, Ribosomal
- Female
- Humans
- MELAS Syndrome
- Male
- Middle Aged
- Muscle, Skeletal
- Mutation
- Phenotype
- RNA, Transfer