CASQ1 and tubular aggregate myopathy: Mutations in Orai1 and STIM1 have been identified in patients with tubular aggregate myopathy (TAM), a rare genetic disease characterized by accumulation, in type-2 fibers, of highly ordered membrane tubules containing SR proteins, such as CASQ1, SERCA, triadin, RyR1, and STIM1 [245,246,247,248,249].