Article
[A new type of periodic paralysis: Andersen-Tawil syndrome].
Bulletin de l'Academie nationale de medecine - 1 Nov 2008
Pouget Jean
Abstract excerpt
Andersen-Tawil syndrome includes a clinical triad consisting of periodic paralysis, cardiac arrhythmia, and usually mild but diagnostically useful dysmorphic features. This potassium channelopathy is due to mutation of the KCNJ2 gene encoding the protein Kir 2.1. The main muscular manifestation i...
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