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.

PubWeight™: 2.67‹?› | Rank: Top 1%

🔗 View Article (PMID 1638703)

Published in Circulation on August 01, 1992

Authors

N D Epstein1, G M Cohn, F Cyran, L Fananapazir

Author Affiliations

1: Clinical Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892.

Associated clinical trials:

Long Term Effects of Enalapril and Losartan on Genetic Heart Disease | NCT00001534

Articles citing this

The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol (2001) 2.83

A transgenic rabbit model for human hypertrophic cardiomyopathy. J Clin Invest (1999) 2.19

Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med (2008) 2.12

Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. J Clin Invest (1993) 2.04

Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Clin Invest (1995) 1.75

Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart (1997) 1.72

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1995) 1.70

Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest (1994) 1.69

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1993) 1.62

Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol (2002) 1.47

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci U S A (1993) 1.47

Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. BMJ (1995) 1.44

Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome. J Clin Invest (1996) 1.35

Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice. J Clin Invest (1997) 1.13

Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. J Clin Invest (1993) 1.13

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart (2003) 1.11

Molecular genetic dissection of mouse unconventional myosin-VA: head region mutations. Genetics (1998) 1.06

Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. Biophys J (1998) 1.04

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. J Cell Biol (1997) 1.01

Molecular genetics and pathogenesis of hypertrophic cardiomyopathy. Minerva Med (2001) 1.00

Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution. Nature (2016) 0.98

Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet (1993) 0.97

Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations. Br Heart J (1995) 0.93

The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene. Br Heart J (1994) 0.93

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J (2010) 0.92

Familial hypertrophic cardiomyopathy mice display gender differences in electrophysiological abnormalities. J Interv Card Electrophysiol (1998) 0.92

Multiple disease genes cause hypertrophic cardiomyopathy. Br Heart J (1994) 0.84

Molecular basis of hypertrophic and dilated cardiomyopathy. Tex Heart Inst J (1994) 0.83

Hypertrophic cardiomyopathy. Arch Dis Child (1994) 0.81

Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy. Biophys J (2012) 0.80

Importance of genetic evaluation and testing in pediatric cardiomyopathy. World J Cardiol (2014) 0.80

A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy. Heart (1996) 0.79

Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity. Front Cardiovasc Med (2016) 0.76

Therapeutic potential of c-Myc inhibition in the treatment of hypertrophic cardiomyopathy. Ther Adv Chronic Dis (2011) 0.76

The cardiac myosin heavy chain Arg-403-->Gln mutation that causes hypertrophic cardiomyopathy does not affect the actin- or ATP-binding capacities of two size-limited recombinant myosin heavy chain fragments. Biochem J (1995) 0.76

HEART DISEASE. Throttling back the heart's molecular motor. Science (2016) 0.75

Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. J Cardiovasc Transl Res (2016) 0.75

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. Exp Clin Cardiol (2001) 0.75

Risk, genotype, and cardiovascular disease. Circulation (1992) 0.75

Articles by these authors

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med (2001) 4.46

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet (1996) 3.02

Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. J Clin Invest (1993) 2.04

Myocardial ischemia detected by thallium scintigraphy is frequently related to cardiac arrest and syncope in young patients with hypertrophic cardiomyopathy. J Am Coll Cardiol (1993) 1.89

Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Clin Invest (1995) 1.75

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1995) 1.70

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1993) 1.62

Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations. Circulation (2000) 1.58

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet (2002) 1.56

A very good death: measuring quality of dying in end-stage renal disease. J Palliat Med (2001) 1.51

Therapeutic options in patients with obstructive hypertrophic cardiomyopathy and severe drug-refractory symptoms. J Am Coll Cardiol (1998) 1.47

R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level. J Muscle Res Cell Motil (2000) 1.44

Myocardial bridging does not predict sudden death in children with hypertrophic cardiomyopathy but is associated with more severe cardiac disease. J Am Coll Cardiol (2000) 1.44

The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. J Muscle Res Cell Motil (1997) 1.40

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol (2000) 1.35

Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation (1995) 1.34

Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy. Circulation (1992) 1.29

Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). J Med Genet (2004) 1.16

Structural and functional responses of mammalian thick filaments to alterations in myosin regulatory light chains. J Struct Biol (1998) 1.12

Reliability of the evoked response in determining the paced ventricular rate and performance of the QT or rate responsive (TX) pacemaker. Pacing Clin Electrophysiol (1985) 1.09

Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis. Circulation (2001) 1.09

Myocardial metabolic, hemodynamic, and electrocardiographic significance of reversible thallium-201 abnormalities in hypertrophic cardiomyopathy. Circulation (1991) 1.06

Abnormal cardiac sensitivity in patients with chest pain and normal coronary arteries. J Am Coll Cardiol (1990) 1.05

Utility of continuous wave Doppler echocardiography in the noninvasive assessment of left ventricular outflow tract pressure gradient in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol (1992) 0.97

Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease. Blood Cells Mol Dis (2010) 0.94

Results of permanent dual-chamber pacing in symptomatic nonobstructive hypertrophic cardiomyopathy. Am J Cardiol (1994) 0.93

The possible relation between late pregnancy hypertension and 5-hydroxytryptamine levels in maternal blood. Br J Obstet Gynaecol (1979) 0.92

Dual chamber pacemaker therapy for mid-cavity obstructive hypertrophic cardiomyopathy. Pacing Clin Electrophysiol (2001) 0.91

Atrial synchronized ventricular pacing: contribution of the chronotropic response to improved exercise performance. Pacing Clin Electrophysiol (1983) 0.90

Ventricular septal defect after myocardial infarction: assessment by cross sectional echocardiography with pulsed wave Doppler scanning. Br Heart J (1987) 0.88

Spontaneous conversion to estrogen receptor expression by the human breast epithelial cell line, MCF-10A. Oncol Rep (1999) 0.86

Comparison of resting hemodynamic indices and exercise performance during atrial synchronized and asynchronous ventricular pacing. Pacing Clin Electrophysiol (1983) 0.86

Sudden cardiac death in hypertrophic cardiomyopathy. Circulation (1992) 0.85

Echocardiographic detection of perforation of the cardiac ventricular septum by a permanent pacemaker lead. Am J Cardiol (1987) 0.85

Genetic evidence of dissociation (generational skips) of electrical from morphologic forms of hypertrophic cardiomyopathy. Am J Cardiol (1990) 0.85

Right ventricular dysfunction and surgical outcome in postinfarction ventricular septal defect. Eur Heart J (1983) 0.85

Regression of multiple pulmonary varices after mitral valve replacement. J Thorac Cardiovasc Surg (1980) 0.82

An antibody assay predictive of BRCA1 mutations in ovarian tumors and normal tissue. Oncol Rep (2000) 0.82

Mechanical environment affects allograft incorporation. J Biomed Mater Res (2000) 0.81

Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism. J Perinatol (1998) 0.81

Myocardial perfusion and sympathetic innervation in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol (2000) 0.81

Minimum steriod requirements in renal transplant patients monitored by urinary fibrin degradation products and complement. Proc Eur Dial Transplant Assoc (1977) 0.81

A Fourier based algorithm for tracking SPAMM tags in gated magnetic resonance cardiac images. Med Phys (1996) 0.79

Effect of intravenous magnesium sulfate on blood magnesium parameters. Magnes Trace Elem (1990) 0.78

Contribution of heart rate to QT interval shortening during exercise. Eur Heart J (1983) 0.77

Hypertrophic obstructive cardiomyopathy: problems of management. Chest (1997) 0.77

Impact of surgical relief of outflow obstruction on thallium perfusion abnormalities in hypertrophic cardiomyopathy. Circulation (1992) 0.77

Myocardial bridging in children with hypertrophic cardiomyopathy. N Engl J Med (1999) 0.77

Results of valve replacement with the Omniscience prosthesis. J Thorac Cardiovasc Surg (1983) 0.76

A rapid immunoassay predicts BRCA1 and BRCA2 mutations in buccal cells. Oncol Rep (2000) 0.76

VT and sudden death in HCM patients. Circulation (1989) 0.75

Comparison of oxyfedrine and atenolol in angina pectoris--a double-blind study. Br J Clin Pharmacol (1985) 0.75

Wolff-Parkinson-White syndrome and sudden cardiac death. Cardiology (1987) 0.75

Comparison of single and divided daily dose spironolactone in the control of hypertension. Br J Clin Pharmacol (1981) 0.75

Comparison of vitreous carbon and elgiloy transvenous ventricular pacing leads. Pacing Clin Electrophysiol (1985) 0.75

Suppression of incessant ventricular tachycardia in hypertrophic cardiomyopathy associated with improvement of severe left ventricular dysfunction. Pacing Clin Electrophysiol (1992) 0.75

Immunohistochemical analysis of BRCA2 expression in normal human buccal cells. Oncol Rep (2000) 0.75

Raised urinary fibrin-degradation products, complement, and IgG during an influenza-like illness. Lancet (1977) 0.75

Radiofrequency catheter atrioventricular node ablation in patients with permanent cardiac pacing systems. Pacing Clin Electrophysiol (1994) 0.75

Experience with 407 transvenous, finned pacing leads with a sintered porous-surfaced electrode. Pacing Clin Electrophysiol (1984) 0.75

Relief of left ventricular outflow tract obstruction following inadvertent left ventricular apical pacing in a patient with hypertrophic cardiomyopathy. Pacing Clin Electrophysiol (1995) 0.75

Long-term follow-up of patients with the QT rate adaptive pacemaker. Pacing Clin Electrophysiol (1989) 0.75

Urinary beta-thromboglobulin in essential hypertension. Br J Haematol (1980) 0.75

Immunohistochemical analysis of BRCA1 expression in normal human buccal cells. Oncol Rep (1998) 0.75

Identification of patients with hypertrophic cardiomyopathy at high risk for sudden death. Curr Opin Cardiol (1995) 0.75

Altered cardiac hemodynamic and electrical state in normal sinus rhythm after chronic dual-chamber pacing for relief of left ventricular outflow obstruction in hypertrophic cardiomyopathy. Am J Cardiol (1992) 0.75

Advances in understanding hypertrophic cardiomyopathy. Hosp Pract (1995) (2001) 0.75