Congenital myopathies: general and ryr1

Ryanodine receptor 1-related congenital myopathies (RYR1-RM) are heterogenous, rare, slowly-progressive neuromuscular disorders for which there is no FDA-approved therapy. 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. RYR1 activity is modulated by several interacting molecules, including FKBP12 which binds to RYR1 at the cytosolic shell (4:1 ratio) and stabilizes the channel in the closed state.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: J. Todd, J. Witherspoon, A. Kushnir, S. Reiken, M. Razaqyar, M. Shelton, I. Chrismer, C. Grunseich, A. Mankodi, C. B önnemann, K. Meilleur Source Type: research