Autosomal Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene).

Also Known As:

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss Muscular Dystrophy 2; Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant; Hauptmann-Thannhauser Muscular Dystrophy; Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant; Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant; Scapuloilioperoneal Atrophy with Cardiopathy; Autosomal Dominant Emery Dreifuss Muscular Dystrophy; Autosomal Emery Dreifuss Muscular Dystrophy; Emery Dreifuss Muscular Dystrophy 2; Emery Dreifuss Muscular Dystrophy, Autosomal Dominant; Hauptmann Thannhauser Muscular Dystrophy

Networked: 44 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Laminopathies
2.	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy)
3.	Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
4.	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
5.	type 1B Limb-girdle muscular dystrophy

Experts

1.	Bonne, G: 7 articles (02/2011 - 08/2000)
2.	Bonne, Gisèle: 6 articles (01/2021 - 01/2005)
3.	Worman, Howard J: 6 articles (01/2021 - 08/2006)
4.	Muchir, Antoine: 5 articles (01/2021 - 05/2007)
5.	Dabauvalle, Marie-Christine: 3 articles (10/2009 - 03/2004)
6.	Mercuri, E: 3 articles (02/2002 - 08/2000)
7.	Muntoni, F: 3 articles (02/2002 - 08/2000)
8.	Schwartz, K: 3 articles (02/2002 - 08/2000)
9.	Decostre, Valérie: 2 articles (01/2021 - 05/2007)
10.	Vignier, Nicolas: 2 articles (01/2021 - 01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Emery-Dreifuss Muscular Dystrophy:

1.	Extracellular Signal-Regulated MAP Kinases (Extracellular Signal Regulated Kinases)IBA 07/01/2013 - "Previously, we demonstrated increased activity of extracellular signal-regulated kinase (ERK) 1/2 in hearts of LmnaH222P/H222P mice, a model of autosomal Emery-Dreifuss muscular dystrophy, and that blocking its activation improved cardiac function. " 01/15/2009 - "We demonstrated previously abnormal activation of the extracellular signal-regulated kinase (ERK) branch of the mitogen-activated protein kinase (MAPK) signaling cascade in hearts of Lmna H222P 'knock in' mice, a model of autosomal Emery-Dreifuss muscular dystrophy. "
2.	Lamin Type A (Lamin A)IBA 02/01/2002 - "The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. " 10/17/2022 - "Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report." 01/01/2017 - "Emery-Dreifuss Muscular Dystrophy 2 (EDMD2) is a muscular disorder caused by mutations of the gene encoding lamin A, LMNA. " 02/01/2002 - "[The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene]." 08/01/2001 - "We present our observations on the skeletal muscle pathology of nine cases from seven families of autosomal dominant Emery-Dreifuss muscular dystrophy (ADEDMD) with identified mutations in the lamin A/C gene, aged 2-35 years at the time of biopsy. "
3.	LaminsIBA 02/01/2011 - "Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in LMNA gene encoding lamins A and C. " 05/01/2008 - "Autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscle wasting and is caused by mutations in the LMNA gene encoding A-type lamins. " 09/01/2005 - "Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy." 01/15/2009 - "Autosomal Emery-Dreifuss muscular dystrophy and related disorders with dilated cardiomyopathy and variable skeletal muscle involvement are caused by mutations in LMNA, which encodes A-type nuclear lamins. " 05/01/2007 - "Activation of MAPK signaling by mutant A-type lamins could be a cornerstone in the development of heart disease in autosomal dominant Emery-Dreifuss muscular dystrophy."
4.	DNA (Deoxyribonucleic Acid)IBA 11/01/2004 - "Autosomal dominant Emery-Dreifuss muscular dystrophy and facioscapulohumeral dystrophy are exclusively identified by DNA study. "
5.	Carrier Proteins (Binding Protein)IBA 01/01/2019 - "Our studies in myoblasts from Emery-Dreifuss muscular dystrophy 2, a LMNA-linked disease affecting skeletal and cardiac muscles, demonstrated that Ankrd2 is a lamin A-binding protein and that mutated lamins found in Emery-Dreifuss muscular dystrophy change the dynamics of Ankrd2 nuclear import, thus affecting oxidative stress response. "
6.	Proteins (Proteins, Gene)FDA Link 04/01/2007 - "Autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) is one of a number of allelic disorders caused by mutations in the nuclear lamina proteins, lamins A and C. " 10/01/2006 - "Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in the LMNA gene that code for the nuclear membrane protein lamin A/C. " 10/01/2002 - "Hauptmann-Thannhauser muscular dystrophy is due to mutations in the LMNA gene affecting the nuclear envelope proteins lamin A and C. " 06/01/2000 - "The gene, LMNA at 1q21, for the autosomal dominant Emery-Dreifuss muscular dystrophy encodes other nuclear membrane proteins, lamins A/C. " 06/10/2007 - "Mutations in genes encoding the intermediate filament nuclear lamins and associated proteins cause a wide spectrum of diseases sometimes called "laminopathies." Diseases caused by mutations in LMNA encoding A-type lamins include autosomal dominant Emery-Dreifuss muscular dystrophy and related myopathies, Dunnigan-type familial partial lipodystrophy, Charcot-Marie-Tooth disease type 2B1 and developmental and accelerated aging disorders. "
7.	Intermediate Filament ProteinsIBA 01/01/2021 - "Mutations in LMNA encoding A-type lamins, intermediate filament proteins of the nuclear envelope, cause autosomal Emery-Dreifuss muscular dystrophy (EDMD). " 01/01/2020 - "Autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the LMNA gene, which encodes the A-type nuclear lamins, intermediate filament proteins that sustain the nuclear envelope and the components of the nucleoplasm. " 01/01/2019 - "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. " 07/01/2013 - "Autosomal Emery-Dreifuss muscular dystrophy is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. "
8.	lamin CIBA 12/01/2001 - "Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in the LMNA gene, which encodes lamin A and lamin C. " 02/01/2001 - "Lamin A and lamin C are alternative splicing products of the lamin A/C gene that is responsible for autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD). " 12/02/1999 - "Genetic defects in distinct domains of the nuclear-envelope proteins lamin A and lamin C selectively cause dilated cardiomyopathy with conduction-system disease or autosomal dominant Emery-Dreifuss muscular dystrophy. "
9.	Mutant Proteins (Protein, Mutant)IBA 01/15/2005 - "When C2C12 myoblasts were transfected with a lamin-A mutant that causes autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD), the mutant protein accumulated in the nucleoplasm and exerted dominant influences over endogenous lamins. "
10.	Poly(A)-Binding Protein IIIBA 06/01/2000 - "These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy, SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias. "

Therapies and Procedures

1.	Heart Transplantation (Grafting, Heart) 04/01/2004 - "Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy."