RYR1 and myopathy: Interestingly, Eckhardt et al. [51] showed a quantitative reduction in MYH1 in a mouse model with biallelic RYR1 mutations; accordingly, Wang et al. [52] showed a significant reduction in MYH1 expression in muscle tissue from RYR1-mutated patients and suggested MYH1 as a potential biomarker for RYR1 myopathies.