Article
Mutation-specific risk in two genetic forms of type 3 long QT syndrome.
The American journal of cardiology - 15 Jan 2010
Liu Judy F, Moss Arthur J, Jons Christian, Benhorin Jesaia, Schwartz Peter J, Spazzolini Carla, Crotti Lia, Ackerman Michael J, McNitt Scott, Robinson Jennifer L, Qi Ming, Goldenberg Ilan, Zareba Wojciech
Abstract excerpt
The clinical course of patients with 2 relatively common long QT syndrome type 3 mutations has not been well described. In the present study, we investigated the mutational-specific risk in patients with deletional (DeltaKPQ) and missense (D1790G) mutations involving the SCN5A gene. The study population involved 50 patients with the DeltaKPQ mutation and 35 patients with the D1790G mutation. The cumulative...
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