Tubular aggregate myopathy is a genetically heterogeneous disease characterized by
tubular aggregates as the hallmark on muscle biopsy. Mutations in STIM1 have recently
been identified as one genetic cause in a number of tubular aggregate myopathy cases. To
characterize the pattern of muscle involvement in this disease, upper and lower girdles and
lower limbs were imaged in five patients with mutations in STIM1, and the scans were
compared with two patients with tubular aggregate myopathy not caused by mutations in …