Article
Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy.
Prenatal diagnosis - 1 Jan 2000
Zühlke C, Atici J, Martorell L, Gembruch U, Kohl M, Göpel W, Schwinger E
Abstract excerpt
The mutation specific for myotonic dystrophy (DM) is an unstable expanded CTG repeat located in the 3'-untranslated region of the myotonin protein kinase gene. Expansion of the CTG repeat shows a positive correlation with the severity of the disease and increases in successive generations of DM patients. Children with the congenital form of DM show the most severe phenotype and have large expansions, usually >...
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