Tubular aggregate myopathy with dystrophic features


Tubular aggregate myopathy (TAM) is pathologically characterized by the presence of tubular aggregates in the muscle fibers. By gain-of-function mutations in STIM1 and ORAI1 genes, constitutive Ca2+ influx into myofibers via activated ORAI1 channels has been proposed as a possible pathogenesis of disease, however the downstream mechanism leading to muscle weakness remains to be clarified. In this study, we aimed to clarify the downstream pathomechanism leading to muscle weakness by the further identification of TAM patients with mutations in STIM1 or ORAI1 genes and characteristic features of muscle pathology in addition to tubular aggregates.


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