Article
Absence of a primary role for TTN missense variants in arrhythmogenic cardiomyopathy: From a clinical and pathological perspective.
Clinical cardiology - 1 May 2018
Chen Kai, Song Jiangping, Wang Zhen, Rao Man, Chen Liang, Hu Shengshou
Abstract excerpt
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inheritable heart disease characterized by fibro-fatty replacement of the myocardium. TTN missense variants were previously reported as a pathogenic factor for ACM. HYPOTHESIS: TTN missense variants are commonly identified in ACM, but have limited effect on the phenotype of ACM. METHODS: We sequenced 15 ACM-related genes in 35 patients who had a heart...
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