Article
A specific point mutation in the mitochondrial genome of Caucasians with MELAS.
Human genetics - 1 Dec 1991
Enter C, Müller-Höcker J, Zierz S, Kurlemann G, Pongratz D, Förster C, Obermaier-Kusser B, Gerbitz K D
Abstract excerpt
The mitochondrial DNA (mtDNA) of Japanese patients suffering from the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) exhibits a specific heteroplasmic A----G transition in the tRNA(Leu) at position 3243. In this study, we investigated mtDNA fr...
Topics
- Acidosis, Lactic
- Adult
- Aged
- Aged, 80 and over
- Blotting, Southern
- Brain Diseases, Metabolic
- Cerebrovascular Disorders
- Child
- DNA, Mitochondrial
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Neuromuscular Diseases
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- RNA, Transfer, Leu