×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
In situ hybridization detection of HTLV-I RNA in peripheral blood mononuclear cells of TSP/HAM patients and their spouses.
1849984
1991
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
10739764
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
10739764
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
10939567
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
10939567
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
11503164
2001
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Structure of the globular tail of nuclear lamin.
11901143
2002
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
The R249Q mutation is located within the central rod domain of the LMNA gene, and has been described in at least five unrelated sporadic EDMD2 patients.
12032588
2002
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
12649505
2003
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.
14659775
2003
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
15372542
2004
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.
15744034
2005
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci.
16772334
2006
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
17377071
2007
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
18551513
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Laminopathies in Russian families.
18564364
2008
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.
19524666
2009
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10.
20498703
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
"Two children with ""dropped head"" syndrome due to lamin A/C mutations."
20886652
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
20980393
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
20980393
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.
21173262
2011