Article
Surveyor nuclease detection of mutations and polymorphisms of mtDNA in children.
Pediatric neurology - 1 Nov 2010
Pilch Jacek, Asman Marek, Jamroz Ewa, Kajor Maciej, Kotrys-Puchalska Elżbieta, Goss Małgorzata, Krzak Maria, Witecka Joanna, Gmiński Jan, Sieroń Aleksander L
Abstract excerpt
Mitochondrial encephalomyopathies are complex disorders with wide range of clinical manifestations. Particularly time-consuming is the identification of mutations in mitochondrial DNA. A group of 20 children with clinical manifestations of mitochondrial encephalomyopathies was selected for molecular studies. The aims were (a) to identify mutations in mtDNA isolated from muscle and (b) to verify detected mutations...
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