|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.
|
9195226 |
1997 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked Emery-Dreifuss muscular dystrophy (EMD) is caused by mutations in the emerin gene.
|
10399752 |
1999 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the emerin gene have been associated with X-linked Emery-Dreifuss muscular dystrophy clinically defined by early joint contractures, progressive muscle weakness, and cardiomyopathy.
|
10533281 |
1999 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in emerin, a nuclear membrane protein.
|
17067998 |
2006 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A few missense and short deletion mutations in the disordered region of emerin are also associated with X-EDMD.
|
31185657 |
2019 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A screening for mutation in the X-linked Emery-Dreifuss muscular dystrophy (X-EMD) gene was performed among patients affected with severe heart rhythm defects and/or dilated cardiomyopathy.
|
11369194 |
2001 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present here the relationship between emerin protein expression, nuclear localization and clinical phenotype for two distal mutations identified in unrelated EDMD patients.
|
10677860 |
2000 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
|
10323252 |
1999 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.
|
15009215 |
2004 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To describe the clinical variability of X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) with cardiac involvement in a four-generation family with a novel mutation in the STA gene.
|
11063761 |
2000 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 46-year-old patient with X-EDMD due to the known splice-site mutation c.449 + 1G>A in the emerin gene experienced palpitations for the first time at the age of 21 years, and a first syncope at the age of 23 years.
|
25502304 |
2015 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
X-linked Emery-Dreifuss muscular dystrophy is usually caused by absence of the nuclear membrane protein, emerin, due to nonsense mutations or deletions, but a few missense mutations also exist.
|
11587540 |
2001 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy.
|
11470279 |
2001 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we are the first to report that emerin mutations which give rise to X-linked Emery-Dreifuss muscular dystrophy, disrupt binding to both nesprin-1alpha and -2beta isoforms, further indicating a role of nesprins in the pathology of Emery-Dreifuss muscular dystrophy.
|
17462627 |
2007 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked Emery-Dreifuss muscular dystrophy is caused by mutations in emerin, a novel nuclear membrane protein.
|
10838245 |
2000 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
More than 100 genetic mutations causing X-linked Emery-Dreifuss muscular dystrophy have been identified in the gene encoding the integral inner nuclear membrane protein emerin.
|
26415001 |
2015 |
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
X-linked Emery-Dreifuss muscular dystrophy is caused by loss of emerin, a LEM-domain protein of the nuclear inner membrane.
|
15328537 |
2004 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
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 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in LMNA encoding lamin A/C and EMD encoding emerin cause cardiomyopathy and muscular dystrophy.
|
31009944 |
2019 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Variants in the emerin gene (EMD) were implicated in X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD), characterized by early-onset contractures of tendons, progressive muscular weakness and cardiomyopathy.
|
24997722 |
2014 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
ERK is a potential target for the pharmacological treatment of cardiomyopathy caused by mutations in the genes encoding emerin and A-type lamins.
|
19022376 |
2009 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy.
|
30506906 |
2019 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations of the emerin gene have been associated with X-linked Emery-Dreifuss muscular dystrophy clinically defined by early joint contractures, progressive muscle weakness, and cardiomyopathy.
|
10533281 |
1999 |