×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
CausalMutation
CLINVAR
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
27760138 2016
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.
24639906 2014
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
A new lamin a mutation associated with acrogeria syndrome.
24687084 2014
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
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
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
Systematic identification of pathological lamin A interactors.
24623722 2014
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780 2014
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.
23497705 2013
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
23804595 2013
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
A novel lamin A/C mutation in a Dutch family with premature atherosclerosis.
23659872 2013
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
23183350 2013
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.
22177269 2012
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
22065502 2011
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.
21085127 2011
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
CausalMutation
CLINVAR
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.
19167105 2010
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
20160190 2010
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
18585512 2008
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
CausalMutation
CLINVAR
Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation.
18031519 2008
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
Laminopathies in Russian families.
18564364 2008
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Here we present two patients with extraordinarily severe forms of progeria caused by unusual mutations in LMNA .
17469202 2007
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.
18646565 2007
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
18035086 2007
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Altered splicing in prelamin A-associated premature aging phenotypes.
17076270 2006
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Familial Idiopathic
1.000
GeneticVariation
CLINVAR
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
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.
15121795 2004
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Progeria
1.000
CausalMutation
CLINVAR
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
15317753 2004