In conclusion, results obtained following expression of CASQ1 mutants in FDB muscle fibers from Casq1 knockout mice suggest that different mechanism can cooperate to trigger the development of TAM in patients with CASQ1 mutations: on one side the lower binding capacity of the three CASQ1 mutants that directly affects SR Ca2+ storage, and, on the other side, the alteration in regulation of Ca2+ entry that contribute to deregulate Ca2+ homeostasis (Barone et al. 2017). This evidence concerns the gene CASQ1 and transient myeloproliferative syndrome.