What is the role of the alpha-1-syntrophin gene in the etiology of long QT syndrome (LQTS)?

Updated: Nov 29, 2017
  • Author: Ali A Sovari, MD, FACP, FACC; Chief Editor: Mikhael F El-Chami, MD  more...
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Answer

The newest genetic missense mutation associated with LQTS has been described in the alpha-1-syntrophin gene and results in gain of function of the sodium channel similar to that observed in LQT3. [15]


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