Article
Autosomal-dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in-frame DSP nonsense mutation.
American journal of medical genetics. Part A - 1 Jul 2018
Singh Sajya M, Casey Susan A, Berg Allison A, Abdelhadi Raed H, Katsiyiannis William T, Bennett Mosi K, Mackey-Bojack Shannon, Duncanson Emily R, Sengupta Jay D
Abstract excerpt
A novel autosomal-dominant in-frame deletion resulting in a nonsense mutation in the desmoplakin (DSP) gene was identified in association with biventricular arrhythmogenic cardiomyopathy across three generations of a large Caucasian family. Mutations that disrupt the function and structure of desmosomal proteins, including desmoplakin, have been extensively linked to familial arrhythmogenic right ventricular...
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