Short QT syndrome 2
Short QT syndrome 2 is an autosomal dominant disorder caused by a missense mutations of the KCNQ1 gene at codon position 307.
Bellocq C et. al. (2004) Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.[^]
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.[^]