Analysis of the unstable mutation responsible for myotonic dystrophy.

Juana M. Barcelo
Myotonic dystrophy (DM) is an autosomal dominant genetic disease which affects approximately 1 in 8000 individuals globally. This is a multisystemic disorder which primarily targets muscle tissues. The genetic defect underlying DM is a highly unstable trinucleotide CTG repeat sequence located in the 3$\sp\prime$ untranslated region of a gene encoding a protein with serine/threonine protein kinase activity. The number of CTG repeats in non-DM individuals ranges from 5 to 35, whereas in DM individuals it...
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