|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
|
14684700 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The cardiac phenotype of the affected family members was severe and progressive with age, indicating the necessity for a genetic testing for LMNA mutations in patients with familial DCM and early onset of conduction disorders.
|
22224630 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with some mutations in the lamin A/C (LMNA) gene are characterized by the presence of dilated cardiomyopathy (DCM), conduction abnormalities, ventricular tachyarrhythmias (VT), and sudden cardiac death (SCD).
|
31847799 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.
|
18646565 |
2007 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our goal was to analyze the LMNA gene in patients with DCM and/or conduction disease referred to the cardiogenetics outpatient clinic and to evaluate the prevalence of LMNA mutations and their clinical expression.
|
18035086 |
2007 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We screened the 12 exons of LMNA in a series of 61 Polish patients with DCM diagnosed angiographically, as well as in two DCM families.
|
16981056 |
2006 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LMNA mutations represent the most prevalent genetic DCM cause.
|
21846512 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genes associated predominantly with arrhythmic DCM included LMNA and SCN5A, as well as the more recently-reported DCM disease genes, RBM20, FLNC, and TTN.
|
30482687 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lamin A/C gene (LMNA) have been reported to be involved in dilated cardiomyopathy (DCM) associated with conduction system disease and/or skeletal myopathy.
|
12920062 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1,713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%).
|
11897440 |
2002 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.
|
19167105 |
2010 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
LMNA mutations represent the most prevalent genetic DCM cause.
|
21846512 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
|
14675861 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The frequency of ventricular arrhythmia in DCM patients with LMNA (50 %) and PLN (43 %) mutations was significantly higher.
|
27576561 |
2017 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Desmosomal and LMNA gene variants identify the subset of DCM patients who are at greatest risk for SCD and life-threatening ventricular arrhythmias, regardless of the left ventricular ejection fraction.
|
31514951 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the LMNA gene encoding lamin A and C are associated with dilated cardiomyopathy (DCM), conduction system defects and skeletal muscle dystrophy.
|
20092787 |
2009 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data confirm the involvement of LMNA mutations in patients with DCM and extend the mutational spectrum of LMNA.
|
15539782 |
2005 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We examined the prevalence, genotype-phenotype correlation, and natural history of lamin A/C gene (LMNA) mutations in subjects with dilated cardiomyopathy (DCM).
|
12628721 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation, Ser143Pro (S143P), was detected in the lamin A/C gene in 24 subjects from 5 unrelated families and in one sporadic case of DCM.
|
15140538 |
2004 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We explored the prevalence, cardiac penetrance, and expressivity of LMNA mutations among familial DCM in Norway.
|
29095976 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, the relationship between LMNA mutation and the development of DCM is poorly understood.
|
16061563 |
2005 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
|
23183350 |
2013 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation S143P in the lamin A/C gene was found to be common among Finnish DCM patients.
|
15140538 |
2004 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LMNA gene represent the most frequent known genetic cause of DCM associated with disease of the conduction systems.
|
24001739 |
2013 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our in vivo and in vitro results question the relationship of causality between LMNA mutations and the development of heart failure in some DCM patients and therefore, the reliability of genetic counselling.
|
16061563 |
2005 |