Article
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
European journal of neurology - 1 Aug 2022
Villar-Quiles Rocio Nur, Sternberg Damien, Tredez Grégoire, Beatriz Romero Norma, Evangelista Teresinha, Lafôret Pascal, Cintas Pascal, Sole Guilhem, Sacconi Sabrina, Bendahhou Said, Franques Jérôme, Cances Claude, Noury J B, Delmont Emilien, Blondy Patricia, Perrin Laurence, Hezode Marianne, Fournier Emmanuel, Fontaine Bertrand, Stojkovic Tanya, Vicart Savine
Abstract excerpt
BACKGROUND AND PURPOSE: 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. METHODS: A retrospective clinical,...
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