[2] described the first patients with CASQ1 aggregate myopathy, and since then seven variants have been linked to the disease: p.(Asp244Gly) [3–7], p.(Asp44Asn) [8], p.(Asn56Tyr) [9], p.(Gly103Asp) [6, 8, 9], p.(Ile385Thr) [8], p.(Val256Met) [10], and p.(Asp244His) [11]. This evidence concerns the gene CASQ1 and myopathy.