Myosin dysregulation in RyR1 related myopathies

Conditions related to mutations in the gene encoding ryanodine receptor 1 (RyR1) are among the most common non-dystrophic genetic muscle disorders, and encompass Malignant Hyperthermia aswell as Central Core Disease. Even though, we now know that these two conditions are highly related to RyR1 malfunction and subsequent calcium transient maladaptation within muscle fibres, the exact mechanisms underlying muscle dysfunction are likely to be more complex and may include a remodeling of other major contractile proteins with molecular and cellular functional consequences.