|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
CTD_human |
CMR is an accurate tool to determine the typical cardiac involvement in lamin A/C cardiomyopathy and may help to initiate early treatment in this malignant familiar form of DCM.
|
21689390 |
2011 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mechanical stress-induced apoptosis has been proposed as the mechanism underpinning DCM in lamin A/C-deficient hearts, but supporting in vivo evidence has been lacking.
|
20019332 |
2010 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
|
11799477 |
2002 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
|
15148145 |
2004 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Lamin A/C gene (LMNA) on chromosome 1p12 is the most significant disease gene causing DCM and has been reported to cause 7-9% of DCM leading to cardiac transplantation.
|
21283746 |
2011 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
The LMNA gene and myocardial ultrastructural and immunochemical changes were analyzed in 73 cases of DCM (49 pure, 15 with AVB [seven familial, eight sporadic], 9 with increased sCPK), four cases of familial AVB and 19 non-DCM heart diseases.
|
11897440 |
2002 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
MGD |
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
|
11799477 |
2002 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The novel hypothesis suggested by the data is that EDMD/CMD1A mutations in the tail domain of lamin A/C work by direct impairment of emerin interaction, whereas mutations in the rod region cause defective lamina assembly that might or might not impair emerin capture at the nuclear rim.
|
12783988 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened a series of 25 unrelated DCM patient samples for (a) cardiomyocyte nuclear abnormalities and (b) mutations in LMNA and TMPO as they are two DCM-causing genes that encode proteins involved in maintaining nuclear envelope architecture.
|
20127487 |
2010 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.
|
22177269 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac beta-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, alpha cardiac actin, alpha tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C.
|
15671604 |
2005 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Conduction system disease and DCM were common in carriers of LMNA variants.
|
18585512 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent pooled cohorts of patients with genetic DCM and in particular in those with Lamin A/C (LMNA) mutations have identified patients at increased risk of SCD and allowed the creation of algorithms to prognosticate SCD risk in mutation carriers.
|
31768884 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC).
|
25837155 |
2015 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
|
15219508 |
2004 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
BEFREE |
Mutation of the LMNA gene, encoding nuclear lamin A and lamin C (hereafter lamin A/C), is a common cause of familial dilated cardiomyopathy (DCM).
|
27235420 |
2016 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Multiple loci and three genes encoding cardiac actin, desmin, and lamin A/C have been described for autosomal dominant DCM.
|
10903836 |
2000 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LMNA<sup>D300N</sup> mutation is associated with DCM in progeroid syndromes.
|
30696354 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
|
18606848 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Major genomic determinants of dilated cardiomyopathy (DCM) are titin truncating mutations and lamin A/C mutations.
|
30527532 |
2019 |