|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, we have ruled out the Emery-Dreifuss muscular dystrophy to be allelic with XMEA by direct sequencing of the emerin gene in three of our families.
|
10757644 |
2000 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the 1990s, mutations in EMD and LMNA were linked to Emery-Dreifuss muscular dystrophy.
|
29549040 |
2018 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Loss of human emerin causes Emery-Dreifuss muscular dystrophy (EDMD).
|
22171324 |
2012 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
LHGDN |
Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy.
|
16761279 |
2006 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in emerin cause X-linked recessive Emery-Dreifuss muscular dystrophy.
|
12684533 |
2003 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD).
|
28188262 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD), a disorder causing progressive skeletal muscle wasting, irregular heart rhythms and contractures of major tendons.
|
29065506 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding a pair of nuclear envelope proteins, emerin and lamin A/C, have been shown to cause the X-linked and autosomal forms respectively of Emery-Dreifuss muscular dystrophy.
|
16904876 |
2007 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the genes for nuclear envelope proteins of emerin (EMD) and lamin A/C (LMNA) are known to cause Emery-Dreifuss muscular dystrophy (EDMD) and limb girdle muscular dystrophy (LGMD).
|
18646565 |
2007 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human <i>EMD</i> gene coding for emerin result in the rare genetic disorder: Emery⁻Dreifuss muscular dystrophy type 1 (EDMD1).
|
30871242 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the inner nuclear envelope protein emerin cause Emery-Dreifuss muscular dystrophy (EDMD), which is characterized by progressive skeletal muscle wasting, cardiac conduction defects, and tendon contractures.
|
24825363 |
2015 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the STA gene, encoding the nuclear envelope protein emerin, are responsible for X-linked EDMD, while mutations in the LMNA gene encoding lamins A and C by alternative splicing have been found in patients with autosomal dominant, autosomal recessive, and sporadic forms of EDMD.
|
11503164 |
2001 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in two nuclear envelope-associated proteins, emerin and lamin A/C cause the Emery-Dreifuss muscular dystrophy; the cellular pathology associated with the disease and the functional role of emerin and lamin A/C in muscle cells are not well established.
|
12685553 |
2003 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, give rise to Emery-Dreifuss muscular dystrophy and to limb-girdle muscular dystrophy 1B (EDMD and LGMD1B).
|
15770669 |
2005 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations spanning the emerin gene have been identified in patients with EDMD.
|
10323252 |
1999 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
|
21697856 |
2011 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings broaden the heterogeneous spectrum of phenotypes attributed to EMD mutations and provide new insight to explain the genotype-phenotype correlations between EMD mutations and EDMD symptoms.
|
24997722 |
2014 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Patient blood cells were predominantly emerin-positive, but considerable nuclear lobulation was observed in non-granulocyte cells - a novel phenotype in EDMD.
|
25454731 |
2015 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent clinical research has confirmed that EDMD is one of several overlapping skeletal muscle phenotypes that can result from mutations in EMD and LMNA with dilated cardiomyopathy as a common feature.
|
31460960 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Seven other patients, four with the X-linked form of Emery-Dreifuss muscular dystrophy (EDMD) and three with an Emery-Dreifuss-like phenotype but no detectable mutations in either the emerin or the lamin A/C gene were also scanned as disease controls.
|
11930270 |
2002 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
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.
|
31430335 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Several recombinations between EDMD and three proximal Xq28 markers suggest that the EDMD gene is located in distal Xq28.
|
1998333 |
1991 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
So far, only 35% of EDMD cases are genetically elucidated and associated with EMD or LMNA gene mutations, suggesting the existence of additional major genes.
|
19716112 |
2009 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
Subtle effects on the function of the lamina-emerin complex in EDMD/CMD1A patients might be responsible for the skeletal and/or cardiac muscle phenotype.
|
12783988 |
2003 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.400 |
Biomarker
|
disease |
BEFREE |
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane.
|
10393813 |
1999 |