Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Experiments were performed in EDMD2-lamin A overexpressing cell lines and EDMD2-affected human myotubes.
|
28531892 |
2017 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
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 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
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 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
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 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
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 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
Biomarker
|
disease |
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 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
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 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Overexpression of the EDMD lamin A R453W mutation in C2C12 myoblasts impairs myogenic differentiation.
|
18396274 |
2008 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
|
18816602 |
2008 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In order to evaluate this, desmin immunolocalisation was determined in skeletal muscle biopsy sections from patients with AD-EDMD and cell lines including MyoD-transfected fibroblast-derived myotubes from AD-EDMD patients and murine embryonic stem cell-derived cardiomyocytes stably transfected with mutant human lamin A. Ultrastructural examination of patient muscle was also performed.
|
17329105 |
2007 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.
|
17493893 |
2007 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Diseases caused by mutations in LMNA encoding A-type lamins include autosomal dominant Emery-Dreifuss muscular dystrophy and related myopathies, Dunnigan-type familial partial lipodystrophy, Charcot-Marie-Tooth disease type 2B1 and developmental and accelerated aging disorders.
|
17467691 |
2007 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
To identify disease-specific transcripts for EDMD, we applied a leave-one-out (LOO) cross-validation approach using LMNA patient muscle as a test data set, with reverse transcription-polymerase chain reaction (RT-PCR) validations in both LMNA and emerin patient muscle.
|
16478798 |
2006 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We used the heart-selective alpha-myosin heavy chain promoter to drive expression in transgenic mice of human wild-type and M371K lamin A, which causes EDMD.
|
16825283 |
2006 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).
|
17107595 |
2006 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We chose the LMNA H222P missense mutation identified in a family with autosomal dominant Emery-Dreifuss muscular dystrophy, one of the striated muscle-specific laminopathies, to create a faithful mouse model of this type of laminopathy.
|
15548545 |
2005 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
|
15639119 |
2005 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
|
12032588 |
2002 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype.
|
11930270 |
2002 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
|
11532159 |
2001 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
Biomarker
|
disease |
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 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
Biomarker
|
disease |
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 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the rod domain of the lamin A/C gene may cause the full clinical spectrum of EDMD-AD.
|
10908904 |
2000 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
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 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
|
10939567 |
2000 |