Article
Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.
Biochimica et biophysica acta - 24 May 1995
Morgan-Hughes J A, Sweeney M G, Cooper J M, Hammans S R, Brockington M, Schapira A H, Harding A E, Clark J B
Abstract excerpt
This study examines the relationship of genotype to phenotype in 14 unselected patients who were found to harbour the A3243G transition in the mitochondrial transfer RNALeu(UUR) gene commonly associated with the syndrome of mitochondrial encephalopathy, lactic acidosis and strokes (MELAS). Only 6...
Topics
- Adolescent
- Adult
- Age of Onset
- Biopsy
- Child
- Cytochrome b Group
- DNA, Mitochondrial
- Electron Transport Complex III
- Electron Transport Complex IV
- Female
- Genotype
- Humans
- MELAS Syndrome
- Male
- Middle Aged
- Mitochondrial Encephalomyopathies
- Muscle, Skeletal
- NAD(P)H Dehydrogenase (Quinone)