Finally, a key role for DES in bone formation is suggested by the stromal interaction molecule 1 (STIM1) R304W gain-of-function knock-in mouse model, that recapitulates the main clinical features observed in patients with tubular aggregates myopathy (TAM; OMIM #160565 and #615883) and Stormoken syndrome (STRMK; OMIM #185070). This evidence concerns the gene STIM1 and tubular aggregate myopathy.