Congenital myopathies: general and ryr1

Identification of the skeletal muscle calcium release channel protein, ryanodine receptor-1 (RYR1), in 1988 and causative variations in its gene, RYR1, in 1991 led to the association of impaired calcium homeostasis with muscle dysfunction. Ryanodine receptor 1-related congenital myopathies (RYR1-RM) are histopathologically and clinically heterogeneous, rare, slowly-progressive neuromuscular disorders. Estimated to affect 1:90,000 children in the US, causative RYR1 variants lead to dysfunctional RyR1-mediated Ca2+ release, elevated oxidative stress and deleterious post-translational modifications.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: T. Lawal, J. Todd, J. Witherspoon, C. Bonnemann, S. Hamilton, J. Dowling, K. Meilleur Source Type: research