In the last decade, mutations in CASQ1 have been identified in patients diagnosed with Vacuolar Myopathy and TAM (Rossi et al. 2014b; Lewis et al. 2015; Barone et al. 2017; Böhm et al. 2018b; Hanna et al. 2021). Here, CASQ1 is linked to X-linked myopathy with excessive autophagy.