Emery-Dreifuss Muscular Dystrophy (X-Linked Emery-Dreifuss Muscular Dystrophy)

203  relevant articles (2 outcomes, 6 trials/studies) found for this Disease

X-Linked Emery-Dreifuss Muscular Dystrophy; Scapuloperoneal Muscular Dystrophy; Muscular Dystrophy, Emery-Dreifuss; Autosomal Dominant Emery-Dreifuss Muscular Dystrophy; Autosomal Recessive Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss Muscular Dystrophy 2; Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive; Emery-Dreifuss Type Muscular Dystrophy; Hauptmann-Thannhauser Muscular Dystrophy; Muscular Dystrophy, Emery-Dreifuss Type; Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant; Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive; Muscular Dystrophy, Scapuloperoneal; Scapuloilioperoneal Atrophy with Cardiopathy; Scapuloperoneal Syndrome, X-Linked; Autosomal Dominant Emery Dreifuss Muscular Dystrophy; Autosomal Recessive Emery Dreifuss Muscular Dystrophy; Emery Dreifuss Muscular Dystrophy 2; Emery Dreifuss Muscular Dystrophy, Autosomal Recessive; Emery Dreifuss Syndrome; Hauptmann Thannhauser Muscular Dystrophy; Muscular Dystrophy, Emery Dreifuss; Scapuloperoneal Syndrome, X Linked; X Linked Emery Dreifuss Muscular Dystrophy; X-Linked Scapuloperoneal Syndrome; Emery-Dreifuss Syndrome; Muscular Dystrophy, Emery-Dreifuss, X-Linked

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
2.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
3.	Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
4.	Familial Partial Lipodystrophy (Dunnigan Syndrome)
5.	Syndrome

Experts

1.	Bonne, G: 4 articles (03/2005 - 08/2000)
2.	Courvalin, Jean-Claude: 3 articles (04/2008 - 01/2003)
3.	Favreau, Catherine: 3 articles (04/2008 - 01/2003)
4.	Buendia, Brigitte: 3 articles (04/2008 - 01/2003)
5.	Ellis, Juliet A: 3 articles (10/2006 - 01/2002)
6.	Wehnert, Manfred: 3 articles (06/2006 - 12/2002)
7.	Brown, Susan C: 2 articles (04/2007 - 09/2005)
8.	Hausmanowa-Petrusewicz, I: 2 articles (10/2006 - 09/2003)
9.	Niebroj-Dobosz, I: 2 articles (10/2006 - 09/2003)
10.	Kendrick-Jones, John: 2 articles (10/2006 - 01/2002)

Drugs and Biologics

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

1.	Lamin Type A (Lamin A)IBA 02/01/2002 - "OBJECTIVE: 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. " 01/12/2009 - "Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy." 12/10/2008 - "Lamin A is a nuclear lamina constituent implicated in a number of human disorders including Emery-Dreifuss muscular dystrophy. " 11/01/2008 - "Remarkably, expression of S404A lamin A in primary cells from healthy tissue caused the nuclear abnormalities that are a hallmark of Emery-Dreifuss muscular dystrophy (EDMD) cells. " 12/01/2007 - "A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype." Order ALL the reference details at left...
2.	1-Phosphatidylinositol 3-Kinase (PI 3 Kinase)IBA 04/01/2008 - "Differentiation of C2C12 myoblasts expressing lamin A mutated at a site responsible for Emery-Dreifuss muscular dystrophy is improved by inhibition of the MEK-ERK pathway and stimulation of the PI3-kinase pathway." Order ALL the reference details at left...
3.	DystrophinIBA 11/01/1993 - "In the other 5 patients dystrophin assay helped to differentiate between Duchenne muscular dystrophy and the Becker muscular dystrophy in 2 patients suspected to have limb-girdle muscular dystrophy, it differentiated Duchenne muscular dystrophy from the Emery-Dreifuss muscular dystrophy and detected a manifest female carrier with Duchenne's dystrophy. " Order ALL the reference details at left...
4.	emerinIBA 06/01/1999 - "Confocal immunofluorescence microscopy studies of the intracellular targeting of truncated forms of emerin, some of which are found in patients with Emery-Dreifuss muscular dystrophy, show that the nucleoplasmic, amino-terminal domain is necessary and sufficient for nuclear retention. " 11/01/2009 - "NET25 and MAN1 share an approximately 40-residue LEM homology domain with emerin, the protein mutated in X-linked Emery-Dreifuss muscular dystrophy. " 10/15/2009 - "X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) is caused by loss of emerin, a nuclear-membrane protein with roles in nuclear architecture, gene regulation and signaling. " 02/01/2009 - "Bclaf1 has also recently been identified as a binding partner for Emerin, a nuclear membrane protein that is mutated in X-linked recessive Emery-Dreifuss muscular dystrophy. " 06/01/2008 - "Furthermore, emerin, the protein involved in the X-linked form of Emery-Dreifuss muscular dystrophy (EDMD), was unevenly distributed along the nuclear envelope in mutant fibroblasts, often forming aggregates in the deformed nuclear envelope areas. " Order ALL the reference details at left...
5.	DNA (Deoxyribonucleic Acid)IBA 11/01/2004 - "Autosomal dominant Emery-Dreifuss muscular dystrophy and facioscapulohumeral dystrophy are exclusively identified by DNA study. " 01/01/1992 - "Further DNA linkage studies on two previously described X-linked recessive Emery-Dreifuss muscular dystrophy (EMD) families are reported, which refine the localization of the gene responsible for EMD. " 01/01/2003 - "The experience of DNA-diagnosis of X-linked recessive Emery-Dreifuss muscular dystrophy for the first time made in Russia is presented. " 01/01/2003 - "[DNA-diagnosis of Emery-Dreifuss muscular dystrophy]" 09/01/1988 - "Two unrelated pedigrees, which show recurrence of Emery-Dreifuss muscular dystrophy (EDMD) in three generations, have been studied using 13 X-linked DNA polymorphisms and somatic cell hybrids to establish the phase of the corresponding alleles in some obligate carriers. " Order ALL the reference details at left...
6.	LaminsIBA 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 - "Mutations in the LMNA gene, which encodes nuclear lamins A and C by alternative splicing, can give rise to Emery-Dreifuss muscular dystrophy. " 09/01/2005 - "Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy." 01/01/2005 - "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. " 03/30/2004 - "BACKGROUND: The autosomal dominant form of Emery-Dreifuss muscular dystrophy (AD-EDMD) is caused by mutations in the gene encoding for the lamins A and C (LMNA). " Order ALL the reference details at left...
7.	CollagenIBA 11/01/2009 - "For the first time our study provides epidemiological information for X-linked Emery-Dreifuss muscular dystrophy and the collagen VI disorders. " Order ALL the reference details at left...
8.	Proteins (Proteins, Gene)IBA 06/01/2001 - "These results suggest that an abnormal ultrastructural arrangement of the nuclear periphery is a common feature in the known forms of Emery-Dreifuss muscular dystrophy, and that several proteins of the nuclear scaffold are necessary in muscle cells to maintain the nuclear structural/functional integrity and a normal muscle cell metabolism." 01/01/2001 - "The discovery that mutations in nuclear lamina proteins cause heritable tissue-specific diseases, including Emery-Dreifuss muscular dystrophy, is prompting a fresh look at the nuclear lamina to devise models that can account for its diverse functions and dynamics, and to understand its enigmatic structure." 05/01/2009 - "Laminopathic diseases affect the distribution of the SUN-KASH complexes, and mutations in KASH-domain proteins can cause Emery Dreifuss muscular dystrophy and recessive cerebellar ataxia. " 12/01/2008 - "The nesprins [also known as SYNEs (synaptic nuclear envelope proteins)] are a family of type II transmembrane proteins implicated in the tethering of membrane-bound organelles and in the genetic aetiology of cerebellar ataxia and Emery-Dreifuss muscular dystrophy. " 06/10/2007 - "Disorders caused by mutations in genes encoding lamin-associated integral inner nuclear membrane proteins include X-linked Emery-Dreifuss muscular dystrophy, sclerosing bone dysplasias, HEM/Greenberg skeletal dysplasia and Pelger-Huet anomaly. " Order ALL the reference details at left...
9.	Nuclear Proteins (Protein, Nuclear)IBA 03/30/2004 - "Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation." 01/01/1999 - "Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy." 04/08/2005 - "Many regions of human MAN1 are homologous to emerin, a LEM domain nuclear protein, loss of which causes Emery-Dreifuss muscular dystrophy (EDMD). " 04/01/1998 - "Emery-Dreifuss muscular dystrophy is an X-linked neuromuscular disorder caused by defects in the STA gene on Xq28, which codes for a nuclear protein named emerin. " 09/01/2003 - "Emerin and lamins are nuclear proteins, which are missing or defective in Emery-Dreifuss muscular dystrophy (EDMD). " Order ALL the reference details at left...
10.	lamin CIBA 10/01/2002 - "Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts." 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). " 04/01/2005 - "In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD). " 12/02/1999 - "CONCLUSIONS: 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. " Order ALL the reference details at left...

Therapies and Procedures

1.	Heart Transplantation (Grafting, Heart) 12/01/2007 - "Heart transplantation in patients with Emery-Dreifuss muscular dystrophy: case reports." 04/01/2004 - "Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy." 08/01/1990 - "Cardiac transplantation in female Emery-Dreifuss muscular dystrophy." Order ALL the reference details at left...
2.	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 04/01/2008 - "We report the first case of witnessed sudden death of an Emery-Dreifuss muscular dystrophy (EDMD) patient with a properly functioning implantable cardioverter-defibrillator (ICD). " 04/01/2008 - "Sudden death in an Emery-Dreifuss muscular dystrophy patient with an implantable defibrillator." 07/01/1999 - "We report a case of fully transvenous single-unit biventricular implantable cardioverter defibrillator (ICD) use in a 43-year-old woman with a manifesting carrier form of muscular dystrophy (Emery-Dreifuss syndrome). " 07/01/1999 - "Biventricular implantable cardioverter defibrillator use in a patient with heart failure and ventricular tachycardia secondary to Emery-Dreifuss syndrome." Order ALL the reference details at left...
3.	Anesthesia 10/01/1996 - "[Anesthesia for cesarean section in a case of Emery-Dreifuss muscular dystrophy]" 05/01/2002 - "PURPOSE: To report a patient with Emery-Dreifuss muscular dystrophy (EDMD) coming for an orthopedic procedure, with potential problems of sudden cardiac death, difficult airway, and neuromuscular disorders who was managed successfully by permanent pacemaker insertion, total iv anesthesia (TIVA), laryngeal mask insertion (LMA) insertion and continuous epidural blockade. " Order ALL the reference details at left...
4.	Orthopedic Procedures 05/01/2002 - "PURPOSE: To report a patient with Emery-Dreifuss muscular dystrophy (EDMD) coming for an orthopedic procedure, with potential problems of sudden cardiac death, difficult airway, and neuromuscular disorders who was managed successfully by permanent pacemaker insertion, total iv anesthesia (TIVA), laryngeal mask insertion (LMA) insertion and continuous epidural blockade. " Order ALL the reference details at left...
5.	Cesarean Section (Caesarean Section) 10/01/1996 - "[Anesthesia for cesarean section in a case of Emery-Dreifuss muscular dystrophy]" Order ALL the reference details at left...