Short QT syndrome 3
Short QT syndrome 3 is an autosomal dominant disorder caused by a missense mutations of the KCNJ2 gene at codon position 172.
Priori SG et. al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.[^]
Schimpf R et. al. (2005) Short QT syndrome.[^]
Moreno C et. al. (2015) A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.[^]