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GENATLAS PHENOTYPE

last update : 12-03-2019

Symbol	CMD1Y
Location	15q22.1
Name	cardiomyopathy, dilated 1Y
Corresponding gene	TPM1
Main clinical features	familial dilated cardiomyopathy shortness of breath, edema, and nonsustained ventricular tachycardia; no echocardiographic features of hypertrophic cardiomyopathy, coronary arteries were normal by angiography, and cardiac biopsy findings were nonspecific and consistent with idiopathic dilated cardiomyopathy
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	disease

Remark(s)

. mutations (E40K and E54K)cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments (Mirza 2007) mutations decrease thin filament Ca2+-sensitivity and Glu40Lys (E40K) reduces maximum activation (Borovikov 2009) Glu40Lys mutant, decreases the amplitude of the tilting of myosin SH1 helix and the rotation of actin subdomain-1 (PMID: 21741356))