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Andersen-Tawil syndrome (ATS) is a rare muscle channelopathy associated with cardiac disturbances and dysmorphic features.Aim To investigate the phenotypes and genotypes of Chinese patients with ATS, so as to differentiate from other muscle channelopathies.Materials and Methods Three Chinese patients from two families clinically manifesting periodic paralysis, cardiac arrhythmia and developmental dysmorphy were ascertained though electrophysiological study and muscle biopsy.Further, mutation analysis for KCNJ2 gene was performed.