Xcode Life

Gene: MYH7

Alternate names for this Gene: CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM

Gene Summary: Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: myosin heavy chain 7

Type of Gene: protein-coding

rs121913642 in MYH7 gene and CARDIOMYOPATHY, DILATED, 1S

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

PMID 15769782 2005 Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PMID 12379228 2002 Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 21127202 2011 Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 10750581 1999 Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.

PMID 23290139 2013 Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

PMID 20573160 2011 Haplotype sharing test maps genes for familial cardiomyopathies.

rs121913642 in MYH7 gene and Cardiomyopathy, Dilated

PMID 16983074 2006 Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function.

PMID 22949430 2012 Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PMID 17351073 2007 Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.

PMID 2753225 1989 Human growth hormone stimulates somatomedin C/insulin-like growth factor I production by the human lymphoid cell line, IM-9.

PMID 23313350 2013 Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy.

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

PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 24691700 2015 A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.

PMID 21211974 2011 Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.

PMID 21750094 2011 Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

PMID 21943931 2011 Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy.

PMID 26025024 2015 Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

PMID 15769782 2005 Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

PMID 19412328 2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

PMID 29212898 2017 Genetic Testing in Pediatric Left Ventricular Noncompaction.

PMID 20573160 2011 Haplotype sharing test maps genes for familial cardiomyopathies.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 23054336 2013 Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.

rs121913624 in MYH7 gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder)

PMID 11133230 2001 Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.

PMID 10329202 1999 Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.

PMID 9829907 1998 Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

PMID 12084606 2002 Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

PMID 9826622 1998 Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.

PMID 10764406 2000 Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy.

PMID 9172070 1997 The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.

PMID 9140839 1997 The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation.

PMID 12601548 2003 Molecular genetics of familial hypertrophic cardiomyopathy (FHC).

PMID 10874840 2000 Identification of an Arg403Gln beta myosin heavy chain gene mutation in a Portuguese family with hypertrophic cardiomyopathy.

PMID 11227787 2000 R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level.

PMID 15358028 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

PMID 10606622 1999 A transgenic rabbit model for human hypertrophic cardiomyopathy.

PMID 12566107 2003 Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.

PMID 11733062 2001 The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.

PMID 10725281 2000 Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.

PMID 10882745 2000 Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy.

PMID 11113006 2000 Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.

PMID 10086390 1999 The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation.

PMID 10065021 1998 Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

PMID 10862102 2000 Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.

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

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 9105042 1997 Point mutations in human beta cardiac myosin heavy chain have differential effects on sarcomeric structure and assembly: an ATP binding site change disrupts both thick and thin filaments, whereas hypertrophic cardiomyopathy mutations display normal assembly.

PMID 8899546 1996 Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy.

PMID 8282798 1994 Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

PMID 13732753 1961 Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy.

PMID 1423936 1992 Accumulation and assembly of myosin in hypertrophic cardiomyopathy with the 403 Arg to Gln beta-myosin heavy chain mutation.

PMID 7883988 1995 Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

PMID 8614836 1996 A mouse model of familial hypertrophic cardiomyopathy.

PMID 9541509 1998 Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy.

PMID 14607462 2003 American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines.

PMID 7994801 1994 DD genotype of the angiotensin-converting enzyme gene is a risk factor for left ventricular hypertrophy.

PMID 12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PMID 8268932 1993 Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

PMID 1417858 1992 Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.

PMID 8898372 1996 Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy.

PMID 12820698 2003 Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.

PMID 12951062 2003 "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

PMID 12975413 2003 Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

PMID 8514894 1993 Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.

PMID 8281650 1994 Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.

PMID 22213221 2012 Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy.

PMID 18565996 2008 The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

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

PMID 24268868 2013 Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes?

PMID 22735528 2012 Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy.

PMID 23580644 2013 Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences.

PMID 23751935 2013 Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy.

PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23054336 2013 Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 7789380 1995 Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 2249844 1990 The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product.

PMID 17987111 2007 The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface.

PMID 16267253 2005 Gene mutations in apical hypertrophic cardiomyopathy.

PMID 1638703 1992 Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.

PMID 7788887 1995 Expression of a mutation causing hypertrophic cardiomyopathy disrupts sarcomere assembly in adult feline cardiac myocytes.

PMID 19808356 2009 Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

PMID 17351073 2007 Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.

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

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 1634614 1992 Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy.

PMID 24033266 2013 A systematic approach to assessing the clinical significance of genetic variants.

PMID 21239280 2012 Two brothers with unexplained cardiomegaly Initial clues to the molecular basis of a hereditary cardiac disease.

PMID 24928957 2014 Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.

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

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 1975517 1990 A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.

PMID 1552912 1992 Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

PMID 8335820 1993 Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene.

PMID 1739523 1992 Progress in familial hypertrophic cardiomyopathy: molecular genetic analyses in the original family studied by Teare.

PMID 12881443 2003 Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients.

PMID 18175163 2008 Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.

PMID 10662815 2000 First description of germline mosaicism in familial hypertrophic cardiomyopathy.

PMID 1975599 1990 Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.

PMID 15856146 2005 Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

PMID 23798412 2013 Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function.

PMID 8250038 1993 Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.

PMID 24829265 2014 β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations.

PMID 8655135 1996 Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.

PMID 12953063 2003 Mutations in the motor domain modulate myosin activity and myofibril organization.

PMID 21769673 2011 Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.

PMID 7731997 1995 Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

PMID 8788376 1995 A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 18411228 2008 The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy.

PMID 11377367 2001 The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

PMID 15563892 2005 Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PMID 1430197 1992 Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.

PMID 10024460 1999 Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.

PMID 22455086 2012 Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.

PMID 23711808 2013 Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.

PMID 18409188 2008 A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

PMID 20865685 2010 The left and right ventricle of a patient with a R723G mutation of the beta-myosin heavy chain and severe hypertrophic cardiomyopathy show no differences in the expression of myosin mRNA.

PMID 20359594 2010 Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

PMID 17097032 2006 Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy.

PMID 15550524 2005 Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells.

PMID 12117842 2002 Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy.

PMID 12473556 2002 "Prevalence and severity of ""benign"" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy."

PMID 15528230 2005 Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations.

PMID 15858117 2005 Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

PMID 8483915 1993 Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

PMID 24510615 2014 Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

PMID 8435239 1993 Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.

PMID 21642240 2011 Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.

PMID 11196015 2000 N232S, G741R and D778G beta-cardiac myosin mutants, implicated in familial hypertrophic cardiomyopathy, do not disrupt myofibrillar organisation in cultured myotubes.

PMID 8533830 1995 Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.

PMID 24093860 2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

PMID 9822100 1998 The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.

PMID 9544842 1998 A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.

PMID 9001794 1996 DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications.

PMID 9154300 1997 Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy.

PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

PMID 27082122 2016 Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.

PMID 15000344 2004 Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.

PMID 19651039 2009 Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.

PMID 16504640 2006 Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes.

PMID 23816408 2013 Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.

PMID 22429680 2012 High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

PMID 24888384 2014 A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.

PMID 18414213 2008 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

PMID 19645038 2009 A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

PMID 20378854 2010 Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.

PMID 7874131 1994 Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy.

PMID 10957787 2000 Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the beta-myosin heavy chain gene and cardiac arrest in childhood. A case report and family study.

PMID 11904418 2002 Mutation of the myosin converter domain alters cross-bridge elasticity.

PMID 9874056 1998 Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family.

PMID 20624503 2011 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

PMID 10521296 1999 The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

PMID 7848441 1994 A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

PMID 11498078 2001 A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family.

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

PMID 24111713 2014 Genetics of hypertrophic cardiomyopathy in Norway.

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

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 17019812 2006 Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure.

PMID 12749056 2003 Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

PMID 27788187 2016 Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

PMID 27066506 2016 The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

PMID 25086479 2015 Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.

PMID 16938236 2006 [Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene].

PMID 19149795 2009 Impact of QT variables on clinical outcome of genotyped hypertrophic cardiomyopathy.

PMID 7662452 1995 Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations.

PMID 24298987 2014 Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 1944483 1991 Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes.

PMID 23233322 2013 Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

PMID 23396983 2013 Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

PMID 8254035 1993 Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.

PMID 7848420 1994 The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene.

PMID 18029407 2008 Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.

PMID 7581410 1995 Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

PMID 11186938 2000 Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation.

PMID 1186938 1975 Child abuse and neglect: a study of cases reported to Douglas County Child Protective Service from 1967-1973.

PMID 22765922 2012 Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

PMID 21674835 2011 Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein.

PMID 7796500 1995 A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.

PMID 17703256 2007 A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family.

PMID 19150014 2009 [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

PMID 16650083 2006 Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.

PMID 10750581 1999 Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.

PMID 18383048 2008 Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy.

PMID 18374998 2009 Hypertrophic cardiomyopathy due to beta-myosin heavy chain mutation with extreme phenotypic variability within a family.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

PMID 21959974 2012 A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.

PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

PMID 23290139 2013 Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

PMID 19666645 2009 Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.

PMID 24183960 2014 DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies.

PMID 20428263 2001 Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report.

PMID 18761664 2008 Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

PMID 21511876 2011 Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.

PMID 15519027 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

PMID 21239446 2011 Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.

PMID 21252143 2011 Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

PMID 20075948 2010 Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond.

PMID 25342278 2014 Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

PMID 17438619 2007 Gene symbol: MYH7.

PMID 15008060 2003 Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up.

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

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

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

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

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

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

PMID 16630449 2006 [Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype].

PMID 20738943 2010 Severe cardiac conduction disturbances and pacemaker implantation in patients with hypertrophic cardiomyopathy.

PMID 21839045 2012 Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.

PMID 20646679 2010 Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands.

PMID 12081993 2002 Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.

PMID 25351510 2015 Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

PMID 22857948 2012 Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population.

PMID 23782526 2013 Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.

PMID 23712688 2013 Tropomyosin isoform expression and phosphorylation in the human heart in health and disease.

PMID 23271734 2013 Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked β-N-acetylglucosamine-substituted protein in human heart myofibrils.

PMID 21576279 2011 Heterogeneity of intramural function in hypertrophic cardiomyopathy: mechanistic insights from MRI late gadolinium enhancement and high-resolution displacement encoding with stimulated echoes strain maps.

rs1057517773 in MYH7 gene and Cardiomyopathy, Hypertrophic, Familial

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

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

PMID 26656175 2016 Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

PMID 26899768 2016 Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

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

PMID 22429680 2012 High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

PMID 9172070 1997 The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.

PMID 10882745 2000 Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy.

PMID 11227787 2000 R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level.

PMID 9826622 1998 Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.

PMID 10606622 1999 A transgenic rabbit model for human hypertrophic cardiomyopathy.

PMID 8614836 1996 A mouse model of familial hypertrophic cardiomyopathy.

PMID 17987111 2007 The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface.

PMID 23751935 2013 Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy.

PMID 10725281 2000 Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.

PMID 18565996 2008 The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils.

PMID 12975413 2003 Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

PMID 1638703 1992 Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.

PMID 1975517 1990 A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.

PMID 12084606 2002 Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

PMID 10662815 2000 First description of germline mosaicism in familial hypertrophic cardiomyopathy.

PMID 12951062 2003 "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

PMID 11133230 2001 Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.

PMID 20428263 2001 Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report.

PMID 15001446 2004 Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 12881443 2003 Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients.

PMID 23798412 2013 Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function.

PMID 8655135 1996 Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.

PMID 1552912 1992 Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

PMID 15358028 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

PMID 24344137 2014 The hypertrophic cardiomyopathy myosin mutation R453C alters ATP binding and hydrolysis of human cardiac β-myosin.

PMID 17351073 2007 Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.

PMID 15858117 2005 Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

PMID 15856146 2005 Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

PMID 8250038 1993 Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

PMID 8335820 1993 Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene.

PMID 8282798 1994 Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

PMID 24510615 2014 Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

PMID 12953063 2003 Mutations in the motor domain modulate myosin activity and myofibril organization.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 24093860 2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

PMID 28611029 2017 Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 28640247 2018 Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup.

PMID 26914223 2016 Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.

PMID 18258667 2008 Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.

PMID 11377367 2001 The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

PMID 21769673 2011 Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.

PMID 20819418 2010 Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy.

PMID 24111713 2014 Genetics of hypertrophic cardiomyopathy in Norway.

PMID 9271024 1997 "Sudden cardiac death in familial hypertrophic cardiomyopathy: are ""benign"" mutations really benign?"

PMID 24829265 2014 β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations.

PMID 8281650 1994 Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.

PMID 20624503 2011 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

PMID 8981935 1996 Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome.

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PMID 1430197 1992 Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.

PMID 15563892 2005 Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PMID 12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PMID 10024460 1999 Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.

PMID 19651039 2009 Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.

PMID 17097032 2006 Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy.

PMID 11113006 2000 Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.

PMID 20359594 2010 Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

PMID 23318932 2013 Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes.

PMID 12117842 2002 Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy.

PMID 9829907 1998 Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 7731997 1995 Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

PMID 21642240 2011 Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.

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PMID 15528230 2005 Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations.

PMID 8514894 1993 Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.

PMID 8483915 1993 Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 8435239 1993 Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.

PMID 24704860 2014 Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.

PMID 24865491 2014 Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.

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

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PMID 9140824 1997 Isometric tension and mutant myosin heavy chain content in single skeletal myofibers from hypertrophic cardiomyopathy patients.

PMID 8533830 1995 Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.

PMID 7883988 1995 Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

PMID 22112859 2012 Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic 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 18409188 2008 A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

PMID 23140321 2012 A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

PMID 21896538 2011 Genetic basis of end-stage hypertrophic cardiomyopathy.

PMID 7848441 1994 A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

PMID 9544842 1998 A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.

PMID 18953637 2009 Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy.

PMID 9062359 1997 Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication.

PMID 9874056 1998 Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family.

PMID 27161882 2017 Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.

PMID 23711808 2013 Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.

PMID 20811150 2010 Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β.

PMID 15519027 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PMID 16983074 2006 Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function.

PMID 23313350 2013 Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy.

PMID 28855170 2017 A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.

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PMID 28771489 2017 Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

PMID 30022097 2018 Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.

PMID 7796500 1995 A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.

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PMID 17192269 2007 Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2.

PMID 17703256 2007 A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family.

PMID 10862102 2000 Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.

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PMID 25078086 2014 Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.

PMID 16858239 2006 A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

PMID 30297972 2018 Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

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PMID 26446785 2015 A Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION.

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

PMID 25086479 2015 Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.

PMID 24691700 2015 A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.

PMID 7662452 1995 Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations.

PMID 1944483 1991 Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes.

PMID 10065021 1998 Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

PMID 8254035 1993 Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.

PMID 15010274 2004 Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties.

PMID 18029407 2008 Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.

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PMID 23816408 2013 Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.

PMID 16650083 2006 Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.

PMID 18383048 2008 Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy.

PMID 23290139 2013 Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

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PMID 10750581 1999 Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.

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PMID 23396983 2013 Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

PMID 21239446 2011 Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.

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PMID 31333075 2019 RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

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PMID 21252143 2011 Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

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PMID 27974200 2016 Early-Onset Hypertrophic Cardiomyopathy Mutations Significantly Increase the Velocity, Force, and Actin-Activated ATPase Activity of Human β-Cardiac Myosin.

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PMID 27483260 2016 A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

PMID 26199943 2015 Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.

PMID 15556047 2004 Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.

PMID 24888384 2014 A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.

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PMID 28193612 2017 Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.

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

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PMID 28138913 2017 Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

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PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 28606303 2017 Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

PMID 30623132 2018 Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells.

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PMID 23785128 2013 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

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PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

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PMID 15322983 2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

PMID 17548557 2007 New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

PMID 10750581 1999 Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.

PMID 23290139 2013 Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

rs121913624 in MYH7 gene and Hypertrophic Cardiomyopathy

PMID 7789380 1995 Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations.

PMID 9826622 1998 Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.

PMID 10086390 1999 The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation.

PMID 8614836 1996 A mouse model of familial hypertrophic cardiomyopathy.

PMID 12084606 2002 Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

PMID 1638703 1992 Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.

PMID 17351073 2007 Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.

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

PMID 10882745 2000 Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy.

PMID 11227787 2000 R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level.

PMID 24928957 2014 Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.

PMID 24268868 2013 Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes?

PMID 22735528 2012 Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy.

PMID 12975413 2003 Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

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

PMID 10725281 2000 Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.

PMID 1975517 1990 A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.

PMID 23580644 2013 Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences.

PMID 23751935 2013 Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy.

PMID 10764406 2000 Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy.

PMID 17987111 2007 The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface.

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

PMID 22213221 2012 Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy.

PMID 11133230 2001 Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.

PMID 16715312 2006 Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.

PMID 15856146 2005 Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

PMID 17495353 2007 Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome.

PMID 1552912 1992 Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

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

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 8655135 1996 Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.

PMID 7731997 1995 Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

PMID 15858117 2005 Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

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

PMID 24344137 2014 The hypertrophic cardiomyopathy myosin mutation R453C alters ATP binding and hydrolysis of human cardiac β-myosin.

PMID 23798412 2013 Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function.

PMID 10662815 2000 First description of germline mosaicism in familial hypertrophic cardiomyopathy.

PMID 15358028 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

PMID 12881443 2003 MYH7 R453C was present in a woman with mild HC, mother of a son who died from SCD.

PMID 15001446 2004 Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium.

PMID 12951062 2003 "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

PMID 21769673 2011 Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.

PMID 8335820 1993 Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene.

PMID 22429680 2012 High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

PMID 24093860 2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

PMID 24510615 2014 Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

PMID 23408646 2013 Structural insight into the UNC-45-myosin complex.

PMID 10567705 1999 Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein.

PMID 9062359 1997 Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication.

PMID 12953063 2003 Mutations in the motor domain modulate myosin activity and myofibril organization.

PMID 8250038 1993 Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 12566107 2003 Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.

PMID 11424919 2001 Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.

PMID 17383184 2007 Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).

PMID 20819418 2010 Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy.

PMID 18411228 2008 The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy.

PMID 8281650 1994 Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 11377367 2001 The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

PMID 9058851 1997 Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death.

PMID 8788376 1995 A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy.

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PMID 9829907 1998 Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

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PMID 27600940 2016 Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

PMID 15556047 2004 Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.

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

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PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

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PMID 20594303 2010 Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifier.

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PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

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PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

rs371898076 in MYH7 gene and Myopathy, Hyaline Body, Autosomal Recessive

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PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

PMID 10750581 1999 Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.

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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.

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PMID 23290139 2013 Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

PMID 10750581 1999 Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.