×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
8673105
1996
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Structural and functional responses of mammalian thick filaments to alterations in myosin regulatory light chains.
9724616
1998
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.
9535554
1998
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy.
10948063
2000
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.
11102452
2001
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.
11102452
2001
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
12404107
2002
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
12404107
2002
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
12818575
2003
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy.
12668451
2003
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.
14594949
2004
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.
16076902
2005
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics.
16751284
2006
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients.
17606808
2007
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
18533079
2008
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kinetics.
18929571
2009
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.
20855589
2010
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.
21835320
2011
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin.
21723297
2011
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Genetic basis of end-stage hypertrophic cardiomyopathy.
21896538
2011
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Diversity and similarity of motor function and cross-bridge kinetics in papillary muscles of transgenic mice carrying myosin regulatory light chain mutations D166V and R58Q.
23727233
2013
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.
23343568
2013
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
25611685
2015
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
26187847
2015
×
Entrez Id:
4633
Gene Symbol:
MYL2
MYL2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
26914223
2016