Overview

Andersen's syndrome


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An autosomal dominant multisystem channelopathy (long QT-7, Andersen cardiodysrhythmic periodic paralysis) characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Caused by mutations in the KCNJ2 gene that encodes the inwardly rectifying potassium channel, Kir2.1. Andersen's disease is glycogen storage disease type IV. Compare Anderson's disease.

Subjects: Medicine and Health.


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