As expected, given its selective skeletal muscle expression, TAM patients with CASQ1 mutations presented signs of only a mild myopathy and, except for one patient who reported ichthyosis, no other symptoms of Stormorken syndrome (Barone et al., 2017; Böhm et al., 2018). The gene discussed is CASQ1; the disease is Stormorken-Sjaastad-Langslet syndrome.