×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
12714972
2003
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
20848652
2011
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.
27723096
2017
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.
24508248
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
20980393
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
16630578
2006
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
25469153
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
19875478
2009
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.
17605093
2007
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.
20497714
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
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
0.100
CausalMutation
disease
CLINVAR
A conserved splicing mechanism of the LMNA gene controls premature aging.
21875900
2011
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Long-term outcome and risk stratification in dilated cardiolaminopathies.
18926329
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans.
21653823
2011
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
15219508
2004
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
14684700
2003
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.
26899768
2016
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
11792809
2001
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.
20155465
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.
27876398
2017
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
17347251
2007
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.
17987279
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Progerin expression disrupts critical adult stem cell functions involved in tissue repair.
25567453
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
19842191
2009
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
CausalMutation
disease
CLINVAR
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
23313286
2013