Congenital myopathies – centronuclear myopathies

Congenital myopathies are progressive muscle disorders affecting children and adults in all populations and can be distinguished by the predominance of particular histopathologic anomalies on muscle biopsies. They are mainly caused by mutations in MTM1, DNM2 or BIN1, encoding proteins implicated in membrane trafficking and organelle positioning. MTM1 and BIN1 are negative regulators of DNM2, and the downregulation of DNM2 in mice was shown to be an efficient pre-clinical therapy for all three CNM forms.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: S. Djeddi, D. Reiss, A. Menuet, S. Freismuth, J. de Carvalho Neves, S. Djerroud, X. Massana-Mu ñoz, A. Sosson, C. Kretz, W. Raffelsberger, C. Keime, O. Dorchies, J. Thompson, J. Laporte Source Type: research