D.P.2.01 Genotype and phenotype studies of myotonic dystrophy 1 (DM1) in Hungarian patients

Abstract

Dystrophia myotonica type 1 (DM1 is a diffuse systemic disorder in which the most prominent features, i.e. myotonia and muscular atrophy may be accompanied by cataracta, gonadal atrophy, endocrine abnormalities, heart conduction defects and mental deficit. It is inherited as an autosomal dominant trait with a variable penetrance. An unstable expansion of (CTG)n repeats in the 3′ untranslated region encoding a member of the protein kinase family in 19q13.3 is the causative mutation for myotonic dystrophy.