×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GermlineCausalMutation
ORPHANET
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
23345
Gene Symbol:
SYNE1
SYNE1
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.520
GermlineCausalMutation
ORPHANET
×
Entrez Id:
23345
Gene Symbol:
SYNE1
SYNE1
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.520
Biomarker
CTD_human
×
Entrez Id:
79188
Gene Symbol:
TMEM43
TMEM43
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.500
Biomarker
CTD_human
×
Entrez Id:
23224
Gene Symbol:
SYNE2
SYNE2
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.500
Biomarker
CTD_human
×
Entrez Id:
23224
Gene Symbol:
SYNE2
SYNE2
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.500
GermlineCausalMutation
ORPHANET
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.310
Biomarker
CTD_human
×
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
GeneticVariation
BEFREE
Genetic defects in distinct domains of the nuclear-envelope proteins lamin A and lamin C selectively cause dilated cardiomyopathy with conduction-system disease or autosomal dominant Emery-Dreifuss muscular dystrophy .
10580070
1999
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
BEFREE
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy .
10080180
1999
×
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
Biomarker
BEFREE
We hypothesized that the analogy between the regional muscle wasting in EDMD-AD and the regional adipocyte degeneration in FPLD, in addition to its chromosomal localization, made LMNA a good candidate gene for FPLD.
10587585
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
Biomarker
BEFREE
These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy , SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias.
10838245
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
BEFREE
Mutations in the rod domain of the lamin A/C gene may cause the full clinical spectrum of EDMD-AD .
10908904
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
BEFREE
All these mutations lie within exon 8 of the lamin A/C gene-an exon that has also been shown to harbor different missense mutations that are responsible for EDMD-AD .
10739751
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
BEFREE
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
Biomarker
CTD_human
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
10814726
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800
GeneticVariation
BEFREE
Twenty-three different mutations of LMNA have so far been shown to cause autosomal-dominant Emery-Dreifuss muscular dystrophy (EDMD2 ), three mutations were reported to cause limb-girdle muscular dystrophy (LGMD1B), eight mutations are known to result in dilated cardiomyopathy (CMD1A), and seven mutations were reported to cause familial partial lipodystrophy (FPL).
11102973
2000
×
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
BEFREE
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
11532159
2001
×
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