Article
Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.
Biochemical and biophysical research communications - 15 May 1991
Yoon K L, Aprille J R, Ernst S G
Abstract excerpt
The mitochondrial DNA (mtDNA) of two unrelated infants with lethal respiratory chain defects was studied using denaturing gradient gel analysis. This analysis revealed melting behavior differences suggesting a point mutation(s) in a restriction fragment containing the apocytochrome b and tRNA(thr) genes. Sequencing revealed that patient 1 had an A to G mutation at nt 15924 which is the last base pair of the...
Topics
- Anticodon
- Base Sequence
- Cytochrome-c Oxidase Deficiency
- DNA, Mitochondrial
- Electron Transport Complex III
- Electron Transport Complex IV
- Female
- Genome, Human
- Humans
- Infant, Newborn
- Mitochondria, Liver