DESCRIPTION:
A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential. Generated by gene2mesh v. 1.1.1
LABEL:
Andersen Syndrome
SCORE TYPE:
Binary
DATE ADDED:
DATE UPDATED:
SPECIES:
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