Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of <i>SCN4A</i>

Abstract

T704M mutations in SCN4A have recently been identified in families with paralysis periodica paramyotonica. Here we report the pathological features of intracellular tubular aggregates (TAs) on muscle biopsy in one family with T704M mutations of SCN4A. Tau, dysferlin and ubiquitin were all expressed in areas of tubule accumulation. These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica. Some proteins can mislocate in the TAs.