P.107Clinical changes over time in patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study

Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by the presence of hypotrophic myofibers with centrally placed nuclei on muscle biopsies. CNM exists in 3 forms: i) X-linked recessive caused by mutations in the MTM gene encoding for the myotubularin protein (OMIM 310400), ii) autosomal dominant caused by mutations in the DNM2 gene encoding for the dynamin 2 protein (OMIM 160150) and iii) autosomal recessive form due to mutations in the BIN1 gene encoding for the amphyphysin 2 protein (OMIM 255200).

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: M. Annoussamy, J. Baets, W. De Ridder, D. Duch êne, A. Grangé, C. Lilien, V. Chê, T. Gidaro, A. Seferian, A. Behin, N. Voermans, M. Bitoun, J. Hogrel, C. Freitag, K. Paradis, L. Thielemans, S. Van Rooijen, L. Servais Source Type: research