Home Page
References OMIM Gene GeneReviews HGMD HGNC
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))