Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) is an autosomal dominant syndrome characterized by conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. TNNI3K mutation in this disease has been reported. The TNNI3K gene encodes the protein TNNI3 interacting kinase which is located at the sarcomere Z disc. It may play a crucial role in cardiac physiology.
Fan LL, Huang H, Jin JY, Li JJ, Chen YQ, Zhao SP, Xiang R
タイトル
Whole exome sequencing identifies a novel mutation (c.333+2T>C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.
