|
Chest Pain
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.
|
1417858 |
1992 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
1638703 |
1992 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
8268932 |
1993 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.
|
8483915 |
1993 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.
|
8282798 |
1994 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
|
7731997 |
1995 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.
|
7796500 |
1995 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.
|
7796500 |
1995 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
|
7731997 |
1995 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.
|
7796500 |
1995 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy.
|
8899546 |
1996 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.
|
9172070 |
1997 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.
|
9172070 |
1997 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
|
9829907 |
1998 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.
|
10065021 |
1998 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.
|
10329202 |
1999 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.
|
10024460 |
1999 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.
|
10024460 |
1999 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.
|
10862102 |
2000 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.
|
11113006 |
2000 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.
|
10725281 |
2000 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.
|
11733062 |
2001 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
|
11133230 |
2001 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |