|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
CLINVAR |
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C).
|
22177269 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
BEFREE |
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C).
|
22177269 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.
|
23582089 |
2013 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Systematic identification of pathological lamin A interactors.
|
24623722 |
2014 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
|
18606848 |
2008 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
|
11792809 |
2001 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
|
15372542 |
2004 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
|
11561226 |
2001 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
|
12628721 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
|
14684700 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
|
Cardiomyopathy, Dilated
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.
|
22177269 |
2012 |
|
Cardiomyopathy, Dilated
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.
|
22177269 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
|
10580070 |
1999 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
|
24375749 |
2014 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
18585512 |
2008 |
|
Cardiomyopathy, Dilated
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
18585512 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
|
16061563 |
2005 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
|
23183350 |
2013 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
|
15219508 |
2004 |