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We used a strategy based on long PCR (polymerase chain reaction) for detection and characterization of mitochondrial DNA (mtDNA) rearrangements in two patients with clinical signs suggesting Pearson… Continue Reading
We report seven unrelated families with mitochondrial tRNA(Ser(UCN)) gene mutations at three different loci. A novel G7497A mutation is found in two families, both of which present with progressive… Continue Reading
Melting curve analysis with the LightCycler instrument can be performed with the SYBR Green I dye or with fluorescent hybridization probes.
We have identified a novel mitochondrial (mt) DNA mutation in the tRNA(Phe)-gene in a patient with an isolated mitochondrial myopathy. This T to C transition at position 618 disrupts a strictly… Continue Reading
A number of human diseases have been associated with mitochondrial (mt)DNA mutations, such as large-scale rearrangements or point mutations within either protein-coding-genes or, more commonly,… Continue Reading