Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice (original) (raw)

Myotonic dystrophy (DM) is a prevalent genetic disorder associated with CTG repeat expansions in the DMPK gene. This study investigates the effects of DMPK expression levels on muscle pathology in mouse models. Contrary to expectations, null Dmpk knockout mice exhibited only mild myopathy without typical DM symptoms, while those with high DMPK expression showed hypertrophic cardiomyopathy. The results suggest that changes in DMPK expression alone do not fully account for the complex clinical manifestations of DM.