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… Click to show full 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 or predominantly painful symptoms, remains incompletely characterized.
Keywords:
phenotypical variability;
andersen tawil;
variability atypical;
presentations french;
tawil syndrome;
atypical presentations
Journal Title: European Journal of Neurology
Year Published: 2022
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Journal Title: European Journal of Neurology
Year Published: 2022
Link to full text (if available)
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recommendations!