rs1060502215
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Muscular Dystrophy, Emery-Dreifuss
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A |
0.700 |
GeneticVariation
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CLINVAR |
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rs199474724
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Muscular Dystrophy, Emery-Dreifuss
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A |
0.700 |
CausalMutation
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CLINVAR |
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rs28928901
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Muscular Dystrophy, Emery-Dreifuss
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T |
0.700 |
CausalMutation
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CLINVAR |
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rs58034145
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Muscular Dystrophy, Emery-Dreifuss
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0.040 |
GeneticVariation
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BEFREE |
Several murine models for EDMD have been generated; however, emerin-null (Emd) mice do not show obvious skeletal and cardiac muscle phenotypes, and Lmna H222P/H222P mutant (H222P) mice show only a mild phenotype in skeletal muscle when they already have severe cardiomyopathy.
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31430335 |
2019 |
rs58034145
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Muscular Dystrophy, Emery-Dreifuss
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0.040 |
GeneticVariation
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BEFREE |
These results showed for the first time that LmnaH222P/H222P mice have decreased performance and provided a new useful means for future therapeutic interventions on this model of EDMD.
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31220270 |
2019 |
rs58034145
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Muscular Dystrophy, Emery-Dreifuss
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0.040 |
GeneticVariation
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BEFREE |
Levels of TGF β2 are also increased in fibroblast and myoblast cultures established from patient biopsies as well as in serum from mice bearing the H222P Lmna mutation causing Emery-Dreifuss Muscular Dystrophy in humans.
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29693488 |
2018 |
rs58034145
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Muscular Dystrophy, Emery-Dreifuss
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0.040 |
GeneticVariation
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BEFREE |
We therefore assessed putative signaling defects in a mouse model carrying a point mutation in Lmna (Lmna (H222P/H222P) ) that faithfully recapitulates human Emery-Dreifuss muscular dystrophy.
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23044536 |
2013 |
rs58932704
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Muscular Dystrophy, Emery-Dreifuss
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0.030 |
GeneticVariation
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BEFREE |
The nuclear envelope protein lamin A is encoded by thelamin A/C(LMNA) gene, which can contain missense mutations that cause Emery-Dreifuss muscular dystrophy (EDMD) (p.R453W).
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27099177 |
2016 |
rs58932704
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Muscular Dystrophy, Emery-Dreifuss
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0.030 |
GeneticVariation
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BEFREE |
The introduction of a point mutation in LB3T-Ig (R454W; LB3T-IgRW), known to cause Emery-Dreifuss muscular dystrophy when present in lamin A, does not inhibit lamin polymerization, chromatin decondensation, or nuclear assembly and growth.
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16227433 |
2005 |
rs58932704
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Muscular Dystrophy, Emery-Dreifuss
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0.030 |
GeneticVariation
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BEFREE |
In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD).
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15748902 |
2005 |
rs57520892
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Muscular Dystrophy, Emery-Dreifuss
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0.020 |
GeneticVariation
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BEFREE |
Some mutations (c.91G>A, c.94_96delAAG, c.116A>G, c.745C>T, c.746G>A, and c.1580G>C) were well correlated with EDMD or L-CMD.
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26098624 |
2015 |
rs57520892
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Muscular Dystrophy, Emery-Dreifuss
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0.020 |
GeneticVariation
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BEFREE |
Three such point mutations, G465D (FPLD), R482L, (FPLD), or R527P (EDMD), were introduced by site-specific mutagenesis in the C-terminal tail domain of a FLAG-tagged full-length lamin A construct.
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12729796 |
2003 |
rs11575937
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Muscular Dystrophy, Emery-Dreifuss
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0.010 |
GeneticVariation
|
BEFREE |
Three such point mutations, G465D (FPLD), R482L, (FPLD), or R527P (EDMD), were introduced by site-specific mutagenesis in the C-terminal tail domain of a FLAG-tagged full-length lamin A construct.
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12729796 |
2003 |
rs267607545
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Muscular Dystrophy, Emery-Dreifuss
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0.010 |
GeneticVariation
|
BEFREE |
In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD).
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15748902 |
2005 |
rs267607594
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Muscular Dystrophy, Emery-Dreifuss
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0.010 |
GeneticVariation
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BEFREE |
We report the clinical characteristics, genetic analysis, and muscle biopsy findings of a family with Emery-Dreifuss muscular dystrophy and a novel mutation (Leu162Pro) in the LMNA gene.
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18816602 |
2008 |
rs57920071
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Muscular Dystrophy, Emery-Dreifuss
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0.010 |
GeneticVariation
|
BEFREE |
In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD).
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15748902 |
2005 |
rs58571998
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Muscular Dystrophy, Emery-Dreifuss
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three such point mutations, G465D (FPLD), R482L, (FPLD), or R527P (EDMD), were introduced by site-specific mutagenesis in the C-terminal tail domain of a FLAG-tagged full-length lamin A construct.
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12729796 |
2003 |
rs58912633
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Muscular Dystrophy, Emery-Dreifuss
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0.010 |
GeneticVariation
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BEFREE |
We identified the underlying cause to be a hitherto unreported de novo missense mutation in the LMNA gene (S143F) encoding the nuclear envelope proteins lamins A and C. Although LMNA mutations have been known to cause Hutchinson-Gilford progeria syndrome and Emery-Dreifuss muscular dystrophy, this is the first report of a patient combining features of these two phenotypes because of a single mutation in LMNA.
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15622532 |
2005 |
rs59653062
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Muscular Dystrophy, Emery-Dreifuss
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0.010 |
GeneticVariation
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BEFREE |
Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy.
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16825283 |
2006 |
rs60458016
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Muscular Dystrophy, Emery-Dreifuss
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0.010 |
GeneticVariation
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BEFREE |
Eight patients presented with either p.R249W/Q or p.E358K mutations and an early onset EDMD phenotype: two mutations recently associated with L-CMD.
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20848652 |
2011 |
rs60934003
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Muscular Dystrophy, Emery-Dreifuss
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0.010 |
GeneticVariation
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BEFREE |
Here we quantitatively examine the composition of the nuclear envelope, as well as the architecture and functions of the cytoskeleton in cells derived from two laminopathic mouse models, including Hutchinson-Gilford progeria syndrome (Lmna(L530P/L530P)) and Emery-Dreifuss muscular dystrophy (Lmna(-/-)).
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18790843 |
2008 |
rs61672878
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Muscular Dystrophy, Emery-Dreifuss
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0.010 |
GeneticVariation
|
BEFREE |
We have studied the expression and the localization of nuclear envelope proteins in three different cell types and muscle tissue of an AD-EDMD patient carrying a point mutation R377H in the lamin A/C gene.
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15053843 |
2004 |