The triad is the skeletal muscle substructure responsible for excitation–contraction coupling by regulation of intracellular calcium homeostasis. A rapidly growing list of skeletal myopathies are caused by gene mutations in components of the triad (CASQ1, STIM1 and ORAI1), but the clinical and molecular features of these diseases are still largely unknown. We collected the clinical, radiological, molecular and histopathological features of patients with mutations in CASQ1, STIM1 and ORAI1 genes diagnosed at Padova neuromuscular center.

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