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GENATLAS PHENOTYPE
last update : 04-03-2009
Symbol CMD1N
Location 17q12
Name cardiomyopathy, dilated 1N
Corresponding gene TCAP
Main clinical features dilated cardiomyopathy and associated heart failure, major causes of morbidity and mortality
Genetic determination not applicable
Function/system disorder cardiovascular
Type disease
Remark(s) . Z disc CSRP3/ TCAP complex is a key component of the cardiomyocyte stretch sensor machinery, and defects in the complex can lead to CMD1N and associated heart failure (Knoll 2008)