While pathogenic variants in the RYR1 gene associated with MH/CCD can induce cycles of muscular necrosis and regeneration, variants in the ASPSCR1 originate an unchecked cellular proliferation: the combined effect of these two variants could have played a role in the development of the rhabdomyosarcoma in this patient [11]. Here, ASPSCR1 is linked to rhabdomyosarcoma.