More recently, the clinical spectrum of predominantly MHS-associated RYR1 mutations has also further expanded, and was found to include other episodic phenotypes such as exertional myalgia associated with rhabdomyolysis (RM) [5] and periodic paralysis [6, 7], but also a distinct late-onset axial myopathy [8, 9] in previously healthy individuals. Here, RYR1 is linked to rhabdomyolysis.