Article
A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies.
Biochemical and biophysical research communications - 29 Apr 1994
Seibel P, Flierl A, Kottlors M, Reichmann H
Abstract excerpt
Alterations of the mitochondrial DNA, encoding important parts of the cellular energy-generating system (oxidative phosphorylation, OXPHOS), are often associated with the occurrence of degenerative neuromuscular diseases. Especially point mutations in the mitochondrial tRNA genes, which cannot be complemented by the nuclear encoded tRNAs, are candidates for severe defects of the OXPHOS system. An A to G...
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