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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)