Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome
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DOI: 10.1111/ene.15369
Abstract: Andersen–Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphism. The muscle phenotype, particularly the atypical forms with prominent permanent weakness… read more here.
Keywords: phenotypical variability; andersen tawil; variability atypical; presentations french ... See more keywords