|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
|
21846512 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
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
|
|
0.720 |
GeneticVariation
|
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
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
|
18606848 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
BEFREE |
The D192G mutation was found in a 26-year-old patient with mild DCM and heart failure leading to death within two years after onset of symptoms.
|
16981056 |
2006 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
BEFREE |
We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or nonspecific changes (R541S).
|
16061563 |
2005 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or nonspecific changes (R541S).
|
16061563 |
2005 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
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
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
|
15219508 |
2004 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.
|
15140538 |
2004 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
|
14684700 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
|
12920062 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
|
14675861 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
|
12628721 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
|
11897440 |
2002 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.
|
12486434 |
2002 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
|
11561226 |
2001 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
|
11792809 |
2001 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.720 |
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 |
|
Cardiomyopathies
|
|
0.020 |
GeneticVariation
|
BEFREE |
The Cardiomyopathy Lamin A/C D192G Mutation Disrupts Whole-Cell Biomechanics in Cardiomyocytes as Measured by Atomic Force Microscopy Loading-Unloading Curve Analysis.
|
26323789 |
2015 |
|
Cardiomyopathies
|
|
0.020 |
GeneticVariation
|
BEFREE |
The affected subjects from the other pedigrees with R60G and D192V mutations developed severe cardiomyopathy requiring defibrillator implantation and cardiac transplantation before 30 years of age in some and premature death in the fourth decade in others.
|
20041886 |
2010 |
|
Myopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Atomic force microscopy (AFM) cell loading/unloading curves were used to provide comprehensive insights into biomechanical behavior of cardiomyocytes carrying the lamin A/C (LMNA) D192G mutation known to cause defective nuclear wall, myopathy and severe cardiomyopathy.
|
26323789 |
2015 |
|
Cardiomyopathy, Dilated
|
|
0.010 |
GeneticVariation
|
BEFREE |
The study documents that D192G mutation in LMNA gene may lead to the disruption of the nuclear wall in cardiomyocytes, thus supporting the mechanical hypothesis of dilated cardiomyopathy development in humans, which might be mutation-specific.
|
18502446 |
2008 |
|
Congestive heart failure
|
|
0.010 |
GeneticVariation
|
BEFREE |
The D192G mutation was found in a 26-year-old patient with mild DCM and heart failure leading to death within two years after onset of symptoms.
|
16981056 |
2006 |
|
Heart failure
|
|
0.010 |
GeneticVariation
|
BEFREE |
The D192G mutation was found in a 26-year-old patient with mild DCM and heart failure leading to death within two years after onset of symptoms.
|
16981056 |
2006 |