Article
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.
Human mutation - 1 Jan 2012
Stallmeyer Birgit, Zumhagen Sven, Denjoy Isabelle, Duthoit Guillaume, Hébert Jean-Louis, Ferrer Xavier, Maugenre Svetlana, Schmitz Wilhelm, Kirchhefer Uwe, Schulze-Bahr Ellen, Guicheney Pascale, Schulze-Bahr Eric
Abstract excerpt
Very recently, mutations in the TRPM4 gene have been identified in four pedigrees as the cause of an autosomal dominant form of cardiac conduction disease. To determine the role of TRPM4 gene variations, the relative frequency of TRPM4 mutations and associated phenotypes was assessed in a cohort of 160 unrelated patients with various types of inherited cardiac arrhythmic syndromes. In eight probands with...
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