|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Systematic identification of pathological lamin A interactors.
|
24623722 |
2014 |
|
Progeria
|
|
0.700 |
CausalMutation
|
CLINVAR |
In contrast to reported RD patients with LMNA mutations, LMNA p.R435C is not located at the cleavage site necessary for processing of prelamin A by ZMPSTE24 and leads to a distinct phenotype combining clinical features of Restrictive Dermopathy, Mandibuloacral Dysplasia and Hutchinson-Gilford Progeria.
|
23804595 |
2013 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
|
23804595 |
2013 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
|
21846512 |
2012 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Autosomal recessive LMNA mutation causing restrictive dermopathy.
|
20662858 |
2010 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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 |
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
|
19842191 |
2009 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
|
18606848 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
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
|
|
0.700 |
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
|
|
0.700 |
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
|
15219508 |
2004 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
|
14675861 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
|
12628721 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
|
14684700 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
|
12920062 |
2003 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
|
14684700 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
|
11897440 |
2002 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
|
11792809 |
2001 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
|
11561226 |
2001 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
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 |
|
Dermatologic disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
In contrast to reported RD patients with LMNA mutations, LMNA p.R435C is not located at the cleavage site necessary for processing of prelamin A by ZMPSTE24 and leads to a distinct phenotype combining clinical features of Restrictive Dermopathy, Mandibuloacral Dysplasia and Hutchinson-Gilford Progeria.
|
23804595 |
2013 |
|
Scleroderma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
|
19842191 |
2009 |