Phenotype characterization in patients with dynamin 2 related centronuclear myopathy

Background: Autosomal-dominant centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene (DNM2) is a rare congenital myopathy characterized by generalized, slowly progressive muscle weakness and wasting usually beginning in late childhood or early adolescence. Methods: We screened 1582 consecutive muscle biopsies of adult patients (age ≥18 years) for morphologically characteristic signs of CNM. Patients with signs of CNM were screened for mutations in DNM2. We analysed clinical data and complementary neurophysiologic, respiratory, cardiac and muscle MRI data in these patients. Results: The age at biops…