Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 06-01-2014

Symbol	CMH13
Location	3p21.1
Name	cardiomyopathy, familial, hypertrophic, 13
Corresponding gene	TNNC1
Other symbol(s)	CMD1Z, CMH1
Main clinical features	characterized by a hypertrophied left ventricle, with a wide range of clinical phenotypes and outcomes hypertrophy of the cardiac papillary muscles causing mid cavity obstruction peripartum cardiomyopathy as an initial manifestation of familial dilated cardiomyopathy in any cases (PMID: 20458010 )
Genetic determination	autosomal dominant
Related entries	including dilated cardiomyopathy CMD1Z (OMIM 611879)
Function/system disorder	cardiovascular
Type	disease

Remark(s)

-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C D75Y mutations causes a reduction in the calcium affinity of TNNC1in troponin complex, regulated thin filaments (RTF), and the Ca(2+) sensitivity of contraction , leading to dilated cardiomyopathy (PMID: 20371872))