Article
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
Circulation. Cardiovascular genetics - 1 Aug 2013
Gerull Brenda, Kirchner Florian, Chong Jessica X, Tagoe Julia, Chandrasekharan Kumaran, Strohm Oliver, Waggoner Darrel, Ober Carole, Duff Henry J
Abstract excerpt
BACKGROUND: Dominant mutations in cellular junction proteins are the major cause of arrhythmogenic cardiomyopathy, whereas recessive mutations in those proteins cause cardiocutaneous syndromes such as Naxos and Carvajal syndrome. The Hutterites are distinct genetic isolates who settled in North America in 1874. Descended from <100 founders, they trace their origins to 16th-century Europe. METHODS AND RESULTS: We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.