Article
The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.
Brain : a journal of neurology - 1 Jun 1995
Hammans S R, Sweeney M G, Hanna M G, Brockington M, Morgan-Hughes J A, Harding A E
Abstract excerpt
The mitochondrial tRNALeu(UUR) A-->G(3243) mutation was identified in 22 unrelated patients. The probands and their relatives were assessed clinically and by quantitative mitochondrial DNA (mtDNA) analysis. While 10 probands had clinical features consistent with the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), usually associated with this mutation, 12...
Topics
- Adult
- Age of Onset
- Aged
- Child
- Codon
- Cytochrome-c Oxidase Deficiency
- DNA Mutational Analysis
- DNA, Mitochondrial
- Electron Transport Complex IV
- Female
- Genetic Testing