[DNA diagnosis in myotonic dystrophy].

Abstract excerpt

Myotonic dystrophy (DM) is an autosomal-dominant, multisystemic disorder characterized by myotonia, progressive muscle atrophy and weakness, cardiac conduction defect, mental retardation, and cataracts. The phenotypic expression of DM varies from asymptomatic adults to severely affected neonates with congenital DM (CDM). DM shows genetic anticipation, an increase in disease severity and earlier age of onset in...

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