Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1

In conclusion, we have characterised the disease mechanisms for six LQT1 compound mutations and report that for four of these defective channel trafficking underlies the severe clinical phenotype.

Source: BJ Cell - June 10, 2014 Category: Biochemistry Authors: S C Harmer, J S Mohal, A A Royal, W J McKenna, P D Lambiase, A Tinker Tags: BJ Disease Source Type: research