Condition: Restrictive cardiomyopathy


rs1382734231 in FLNC;FLNC-AS1 gene and Restrictive cardiomyopathy PMID 30260051 2018 Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.

rs727503244 in MHRT;MYH7;MIR208B gene and Restrictive cardiomyopathy PMID 20818890 2010 Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy.

rs397516153 in MYH7 gene and Restrictive cardiomyopathy PMID 18380764 2008 A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 18076673 2008 Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain.

PMID 20800588 2010 Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

PMID 20394946 2010 A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation.

PMID 25935763 2015 Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 23690394 2013 Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.

PMID 23549607 2013 T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.

PMID 17125710 2006 [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].

PMID 25524337 2014 Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

PMID 22260945 2012 Conduction abnormalities in pediatric patients with restrictive cardiomyopathy.

rs369634007 in TMEM87B gene and Restrictive cardiomyopathy PMID 27148590 2016 Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.

rs104894729 in TNNI3 gene and Restrictive cardiomyopathy PMID 15961398 2005 To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out.

PMID 22675533 2012 Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.

PMID 20161772 2010 Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease.

PMID 16531415 2006 Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.

PMID 19289050 2009 Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.

PMID 19449150 2009 Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy.

PMID 12531876 2003 Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.

PMID 18408133 2008 Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI.

PMID 17463320 2007 Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling.

PMID 23906401 2013 [Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy].

PMID 17027633 2006 A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice.

PMID 21533915 2011 Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.

PMID 20800588 2010 Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

PMID 20031618 2009 Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

PMID 17599605 2007 Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.

rs727503513 in TNNT2 gene and Restrictive cardiomyopathy PMID 10525521 1999 A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.