×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
Biomarker
CTD_human
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
30055862
2018
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
Biomarker
BEFREE
Experiments were performed in EDMD2 -lamin A overexpressing cell lines and EDMD2 -affected human myotubes.
28531892
2017
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
UNIPROT
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
27234031
2017
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
Biomarker
GENOMICS_ENGLAND
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.
27717888
2016
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
BEFREE
Here we have focused on autosomal dominant Emery-Dreifuss Muscular Dystrophy , one such laminopathy where R453W is the causative mutation located in the Ig domain of lamin A.
25343322
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Congenital fiber type disproportion myopathy caused by LMNA mutations.
24642510
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.
22883396
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
BEFREE
Missense mutations were found in 14 patients (82%) with EDMD2 and 14 patients (78%) with MDCL compared to 17 patients (45%) with LGMD1B and 4 (67%) atypical patients.
25274841
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
23349452
2013
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
CLINVAR
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
23427149
2013
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
UNIPROT
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
22431096
2012
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
CausalMutation
CLINVAR
Inflammatory changes in infantile-onset LMNA-associated myopathy.
21632249
2011
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
BEFREE
Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in LMNA gene encoding lamins A and C. The disease is characterized by early onset joint contractures during childhood associated with humero-peroneal muscular wasting and weakness, and by the development of a cardiac disease in adulthood.
21063730
2011
×
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
×
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
GeneticVariation
BEFREE
They are caused by mutations in collagen VI (ColVI) genes (COL6A1, COL6A2, and COL6A3) while LMNA mutations cause autosomal dominant Emery-Dreifuss muscular dystrophy .
20576434
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 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
Biomarker
GENOMICS_ENGLAND
The genetics of dilated cardiomyopathy.
20186049
2010
×
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
Biomarker
BEFREE
These results suggest that lamin A/C -mediated NMJ defects contribute to the AD-EDMD disease phenotype and provide insights into the cellular and molecular mechanisms for the muscle-specific phenotype of AD-EDMD .
19124654
2009
×
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
BEFREE
Altogether, these data suggest that the LMNA mutation p.R545C impairs both proliferation and differentiation capacities of myoblasts as part of the pathogenesis of AD-EDMD .
19589617
2009