|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Leg muscle imaging investigations were performed in a cohort of patients with LMNA gene alterations who were suffering from Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B, isolated cardiac disorders or a phenotype of cardiac disorders, and lipodystrophy, including one individual with peripheral neuropathy.
|
19882644 |
2010 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.
|
11792810 |
2001 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lamin A (LMNA) gene are associated with the tissue-specific diseases Emery-Dreifuss muscular dystrophy (EDMD), limb girdle muscular dystrophy (LGMD-1B), dilated cardiomyopathy with conduction system disease (DCM-CD), and Dunnigan's familial partial lipodystrophy (FPLD).
|
11709282 |
2001 |
|
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 |
LHGDN |
Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects.
|
18396274 |
2008 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LMNA gene encoding the nuclear envelope protein, lamins A and C, have been associated with at least nine distinct disorders now called laminopathies, including Emery-Dreifuss muscular dystrophy and Charcot-Marie-Tooth type 2 disease.
|
15639119 |
2005 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Described here is the phenotypical expression of a novel LMNA mutation c.1157 G>T in a Czech patient with an early-onset form of Emery-Dreifuss muscular dystrophy.
|
19589462 |
2009 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
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
|
0.700 |
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 |
The causative mutation is either in the emerin gene (X-linked recessive EDMD) or lamin A/C gene (autosomal dominant EDMD2 or LGMD1B).
|
15832002 |
2005 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy.
|
12196663 |
2002 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LMNA were frequently identified among patients with sporadic and familial forms of EDMD.
|
11503164 |
2001 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, one EDMD-AD mutation also interfered with the interaction between lamin A and SREBP1.
|
11929849 |
2002 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
CTD_human |
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 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, mutations in the human lamin A/C gene have recently been linked to several diseases, including Emery-Dreifuss muscular dystrophy.
|
11766876 |
2001 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 members of 6 families and 17 sporadic cases).
|
10939567 |
2000 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Emery-Dreifuss muscular dystrophy (EDMD1) is caused by mutations in either the X-linked gene emerin (EMD) or the autosomal lamin A/C (LMNA) gene.
|
16403804 |
2006 |
|
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 loci affected include mutations in both muscle-specific genes and genes that are more widely expressed such as LMNA and EMD, responsible for EDMD (Emery-Dreifuss muscular dystrophy).
|
19021553 |
2008 |
|
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 |
In the 1990s, mutations in EMD and LMNA were linked to Emery-Dreifuss muscular dystrophy.
|
29549040 |
2018 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LMNA gene encoding A-type lamins cause several diseases, including Emery-Dreifuss muscular dystrophy and Dunnigan-type familial partial lipodystrophy (FPLD).
|
16415042 |
2006 |
|
Muscular Dystrophy, Emery-Dreifuss
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in lamin A/C cause 4 diseases: Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy type 1B, Dunnigan-type familial partial lipodystrophy, and dilated cardiomyopathy.
|
11561226 |
2001 |