|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
Five cases were diagnosed with different forms of cardiomyopathies, and exome sequencing revealed the presence of already documented or novel mutations in known genes in three cases: LMNA for an Emery Dreifuss Muscular Dystrophy case, PKP2 for an arrhythmogenic right ventricle dysplasia case, and MYPN for a dilated cardiomyopathy case.
|
30764827 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The unstable EDMD Ig-domain disrupted the proper assembly of lamin A, resulting in abnormal paracrystal formation and decreased viscosity.
|
30853177 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
Biomarker
|
disease |
BEFREE |
The LMNA gene is associated to a huge broad of phenotypes, including congenital Emery-Dreifuss muscular dystrophy and late-onset LMNA-related muscular dystrophy.
|
31410651 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope.
|
31220270 |
2019 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the 1990s, mutations in EMD and LMNA were linked to Emery-Dreifuss muscular dystrophy.
|
29549040 |
2018 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
Biomarker
|
disease |
BEFREE |
LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD).
|
29893365 |
2018 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin-interacting proteins.
|
29633897 |
2018 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among those, the Emery Dreifuss Muscular Dystrophy (EDMD) is of particular interest as, despite the several known mutations of Lamin A/C, the genotype-phenotype correlation still remains poorly understood; this suggests that the epigenetic background of patients might play an important role during the time course of the disease.
|
29619865 |
2018 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
Biomarker
|
disease |
CTD_human |
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
|
30055862 |
2018 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress.
|
28531892 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD).
|
28984111 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we used RNA sequencing to analyze the global changes in gene expression caused by the L535P EDMD lamin mutation in order to gain better understanding of disease mechanisms and the correlation between transcription and phenotype.
|
27673727 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have investigated Samp1 (Spindle Associated Membrane Protein 1), a transmembrane nuclear envelope protein, which interacts with emerin and lamin A, both of which are linked to Emery-Dreifuss muscular dystrophy (EDMD).
|
29192166 |
2017 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
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).
|
27099177 |
2016 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
Biomarker
|
disease |
BEFREE |
Serum levels of TIMP-1 were normal in autosomal AD-EDMD and increased in the majority of X-linked EDMD.
|
25563468 |
2015 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies.
|
25886484 |
2015 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The present study aimed to examine and analyze cardiac involvement in two Emery‑Dreifuss muscular dystrophy (EDMD) pedigrees caused by the c.1583 C→G mutation of the lamin A/C gene (LMNA).
|
26165385 |
2015 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These "muscle-specific" isoforms are thought to form a complex with emerin and lamin A/C at the inner nuclear membrane and mutations in all three proteins cause Emery-Dreifuss muscular dystrophy and/or inherited dilated cardiomyopathy, disorders in which only skeletal muscle and/or heart are affected.
|
24718612 |
2014 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The more common X-linked recessive form of EDMD is caused by mutations in either EMD (encoding emerin) or FHL1 (encoding four and a half LIM domains 1), while mutations in LMNA (encoding lamin A/C), SYNE1 (encoding nesprin-1) and SYNE2 (encoding nesprin-2) lead to autosomal dominant forms of the condition.
|
23456229 |
2013 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Human LMNA gene mutations result in laminopathies that include Emery-Dreifuss muscular dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature aging syndrome (HGPS).
|
22541428 |
2012 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
Biomarker
|
disease |
BEFREE |
Dominant inherited Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B are due to mutations in the LMNA gene encoding lamin A/C and present similar life-threatening cardiac disease, the early diagnosis of which lacks reliable biomarkers.
|
22071332 |
2012 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
Biomarker
|
disease |
BEFREE |
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy.
|
21922471 |
2011 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We then express at low levels in otherwise wild-type worms a lamin carrying a point mutation, Y59C, which in humans is linked to an autosomal-dominant form of Emery-Dreifuss muscular dystrophy.
|
21962710 |
2011 |