Congenital Structural Myopathies (Centronuclear Myopathy)

108  relevant articles (1 outcomes, 4 trials/studies) found for this Disease

Centronuclear Myopathy; Myotubular Myopathy; Myopathy, Myotubular; Myopathy, Centronuclear; Congenital Fiber Type Disproportion; Myopathies, Structural, Congenital; Congenital Non-Progressive Myopathies; Non-Progressive Myopathies, Congenital; Structural Myopathies, Congenital; Aggregate Myopathies, Tubular; Aggregate Myopathy, Tubular; Centronuclear Myopathies; Congenital Non Progressive Myopathies; Congenital Non-Progressive Myopathy; Congenital Structural Myopathy; Myopathies, Centronuclear; Myopathies, Congenital Non-Progressive; Myopathies, Congenital Structural; Myopathies, Myotubular; Myopathies, Tubular Aggregate; Myopathy, Congenital Non-Progressive; Myopathy, Congenital Structural; Myopathy, Tubular Aggregate; Myotubular Myopathies; Non Progressive Myopathies, Congenital; Non-Progressive Myopathy, Congenital; Structural Myopathy, Congenital; Tubular Aggregate Myopathies; Tubular Aggregate Myopathy

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Muscular Diseases (Myopathy)
2.	Central Core Myopathy (Central Core Disease)
3.	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
4.	Nemaline Myopathies (Nemaline Myopathy)
5.	Syndrome

Experts

1.	Mandel, Jean-Louis: 5 articles (07/2008 - 11/2006)
2.	Bitoun, Marc: 5 articles (12/2007 - 11/2005)
3.	Guicheney, Pascale: 5 articles (12/2007 - 11/2005)
4.	Laporte, Jocelyn: 5 articles (12/2007 - 11/2005)
5.	Romero, Norma B: 4 articles (12/2007 - 11/2005)
6.	Kretz, Christine: 3 articles (07/2008 - 11/2006)
7.	Fardeau, Michel: 3 articles (12/2007 - 11/2005)
8.	Nicot, Anne-Sophie: 3 articles (12/2007 - 09/2007)
9.	Buj-Bello, Anna: 2 articles (07/2008 - 04/2007)
10.	Beggs, Alan H: 2 articles (07/2008 - 11/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Structural Myopathies:

1.	Dynamin IIIBA 04/01/2008 - "Mutations in dynamin 2 (DNM2) have been associated with autosomal dominant centronuclear myopathy, dominant intermediate Charcot-Marie-Tooth (CMT) type B and CMT2" 12/01/2007 - "Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation." 12/01/2007 - "We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years" 12/01/2007 - "Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset." 01/01/2007 - "Dynamin 2 has recently been recognized as a causative gene for the autosomal dominant form of centronuclear myopathy (dominant centronuclear myopathy)" Order ALL the reference details at left...
2.	DesminIBA 04/01/1995 - "In all biopsy specimens obtained from patients with central core disease (CCD), nemaline myopathy (NM), X-linked myotubular myopathy (XLMTM) and centronuclear myopathy (CNM), disease-specific desmin disturbances were observed" 11/01/1992 - "We report, for the first time, muscle immunocytochemical studies in sporadic, adult onset myotubular myopathy (SAOMM), which show intramyofibrillar central, perinuclear desmin and vimentin" 04/01/1994 - "X-linked recessive myotubular myopathy is associated with overexpression of vimentin and desmin, fetal intermediate filaments that attach to nuclear, mitochondrial, and inner sarcolemmal membranes and Z-bands of sarcomeres to preserve the morphologic organization of the myotube" 11/01/1992 - "Abnormal distribution of desmin and vimentin in myofibers in adult onset myotubular myopathy." 05/01/1990 - "Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin" Order ALL the reference details at left...
3.	VimentinIBA 11/01/1992 - "We report, for the first time, muscle immunocytochemical studies in sporadic, adult onset myotubular myopathy (SAOMM), which show intramyofibrillar central, perinuclear desmin and vimentin" 04/01/1994 - "X-linked recessive myotubular myopathy is associated with overexpression of vimentin and desmin, fetal intermediate filaments that attach to nuclear, mitochondrial, and inner sarcolemmal membranes and Z-bands of sarcomeres to preserve the morphologic organization of the myotube" 11/01/1992 - "Abnormal distribution of desmin and vimentin in myofibers in adult onset myotubular myopathy." 05/01/1990 - "Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin" 04/01/1991 - "In X-linked myotubular myopathy (5 cases) myofibres showed strong reactivity for both vimentin and desmin; in myotonic dystrophy desmin but not vimentin had strong reactivity in myofibres of neonates and children" Order ALL the reference details at left...
4.	DNA (Deoxyribonucleic Acid)IBA 09/01/1995 - "The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies." 08/01/2003 - "We have compared the X inactivation patterns in blood DNA with the clinical phenotype in carriers of X-linked myotubular myopathy" 04/01/1993 - "Determination of nuclear DNA by flow cytometry of skeletal muscle biopsies of three unrelated male patients with centronuclear (myotubular) myopathy demonstrated, in two patients, a normal pattern and, in one case, a near haploid DNA content in c" 04/01/1993 - "Heterogeneity of centronuclear myopathy shown by flow cytometry of nuclear DNA." 05/15/1979 - "Familial centronuclear myopathy: a haploid DNA disease?" Order ALL the reference details at left...
5.	Cytoskeletal ProteinsIBA 01/01/2006 - "Immunocytochemical study of cytoskeletal proteins in centronuclear myopathies." 08/01/1992 - "These cytoskeletal proteins are uniformly expressed in myofibers of neonates with X-linked recessive myotubular myopathy" 10/01/1994 - "We have investigated supposed maturational arrest of muscle in centronuclear myopathies (CNMs) by characterizing the expression of dystrophin, other cytoskeletal proteins, and fetal myosin in the muscle fibers of 9 CNM patients (4 sporadic, 3 familial, 2 adult sporadic)" Order ALL the reference details at left...
6.	myotubularinIBA 07/15/2008 - "AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis." 03/01/2008 - "Mutations in the protein responsible for X-linked myotubular myopathy (myotubularin, MTM1) also induced NFL abnormalities in these cells" 08/01/2007 - "Myotubularin [myotubular myopathy 1 (MTM1)] PI 3-phosphatase is shown associated with early and late endosomes" 04/02/2004 - "Mutations of myotubularin are found in X-linked myotubular myopathy, a severe muscle disease" 02/20/2004 - "MTM1, the gene encoding myotubularin (MTM1), is mutated in the X-linked myotubular myopathy (XLMTM), a severe genetic muscular disorder" Order ALL the reference details at left...
7.	Proteins (Proteins, Gene)IBA 05/01/1992 - "Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies." 12/01/2005 - "Mutations in MTM proteins are associated with inherited conditions such as myotubular myopathy and Charcot-Marie-Tooth syndrome" 02/01/2005 - "However, a number of congenital myopathies have been molecularly elucidated: central and multiminicore diseases, nemaline myopathy, myotubular myopathy, and congenital myopathy marked by aggregation of proteins, giving rise to the concept of protein aggregate myopathies, to which now desminopathies, alpha-B crystallinopathies, selenoproteinopathy, myotilinopathy, actinopathies, and myosinopathies belong" 05/01/2003 - "The MTMR protein family includes proteins with a phosphoinositide phosphatase activity, as well as proteins in which key catalytic residues are missing and that are thus called "pseudophosphatases." MTM1, the first identified member of this family, and MTMR2 are responsible for X-linked myotubular myopathy and Charcot-Marie-Tooth disease type 4B1, an isolated peripheral neuropathy with myelin outfoldings, respectively" 10/01/2003 - "Here we will focus on myotubularin, the protein mutated in the X-linked myotubular myopathy (XLMTM) and the founding member of a family of 13 related proteins" Order ALL the reference details at left...
8.	phosphatidylinositol 3-phosphateIBA 09/01/2003 - "In families in which myotubular myopathy segregates, detected mutations in MTM1 abolish the specific phosphatase activity targeting the second messenger phosphatidylinositol 3-phosphate" 11/01/2006 - "A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy." 08/01/2002 - "Myotubularin, the phosphatase mutated in X-linked myotubular myopathy, was shown to dephosphorylate phosphatidylinositol 3-monophosphate (PtdIns3P) and was also reported to interact with nuclear transcriptional regulators from the trithorax family" 03/18/2003 - "Myotubularins are a family of Phosphatidylinositol 3-phosphate (PtdIns3P) phosphatases identified by the positional cloning of the MTM1 gene in patients suffering from X-linked myotubular myopathy and the MTMR2 gene in patients suffering from the demyelinating neuropathy Charcot-Marie-Tooth disease type 4B" 09/15/2002 - "The founder member of this gene family, MTM1, is mutated in X-linked myotubular myopathy, a severe congenital disorder that affects skeletal muscle, and codes for myotubularin, a specific phosphatidylinositol 3-phosphate [PI(3)P] phosphatase" Order ALL the reference details at left...
9.	Phosphatidylinositols (Phosphatidylinositol)IBA 02/20/2004 - "These data demonstrate for the first time a role for MTM1 in the production of PtdIns(5)P in mammalian cells, suggesting that the lack of transformation of phosphatidylinositol 3,5-bisphosphate into PtdIns(5)P might be an important component in the etiology of myotubular myopathy." 02/08/2002 - "Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease." 01/01/2002 - "Myotubularin, the gene mutated in myotubular myopathy, functions as a lipid phosphatase with specificity for PtdIns(3)P" 01/01/2006 - "The importance of PtdIns(3,5)P(2) for normal cell function is underscored by recent evidence for its involvement in mammalian cell responses to insulin and for PtdIns(3,5)P(2) dysfunction in the human genetic conditions X-linked myotubular myopathy, Type-4B Charcot-Marie-Tooth disease and fleck corneal dystrophy." 08/01/2008 - "The PtdIns3P and PtdIns(3,5)P(2) 3-phosphatase myotubularin gene is mutated in X-linked centronuclear myopathy, whereas its homologs MTMR2 and MTMR13 and the PtdIns(3,5)P(2) 5-phosphatase SAC3/FIG4 are implicated in Charcot-Marie-Tooth peripheral neuropathies" Order ALL the reference details at left...
10.	Dynamins (Dynamin)IBA 12/01/2007 - "Our results expand the phenotypic spectrum of dynamin 2-related centronuclear myopathy from the classic mild form to the more severe neonatal phenotype." 02/01/2007 - "Myopathic (not neuropathic) electrophysiological abnormalities in dynamin 2-related centronuclear myopathy." 06/01/2006 - "Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy." Order ALL the reference details at left...

Therapies and Procedures

1.	General Anesthesia 11/01/2004 - "General anesthesia in an infant with X-linked myotubular myopathy." 10/01/1998 - "General anesthesia for a patient with centronuclear (myotubular) myopathy." Order ALL the reference details at left...
2.	Transplants (Transplant) 01/01/2003 - "Centronuclear myopathy and cardiomyopathy requiring heart transplant." Order ALL the reference details at left...
3.	Fundoplication 11/01/2004 - "We present a 20-week-old infant with the X-linked form of myotubular myopathy who required anesthesia for a Nissen fundoplication procedure where the response to nondepolarizing neuromuscular blockade was evaluated." Order ALL the reference details at left...
4.	Heart Transplantation (Grafting, Heart) 01/01/2003 - "Although cardiomyopathy is commonly associated with other childhood myopathies, to our knowledge, this is the youngest patient reported with centronuclear myopathy presenting with heart failure caused by cardiomyopathy, and the first patient to successfully undergo cardiac transplantation" Order ALL the reference details at left...
5.	Anesthesia 11/01/2004 - "We present a 20-week-old infant with the X-linked form of myotubular myopathy who required anesthesia for a Nissen fundoplication procedure where the response to nondepolarizing neuromuscular blockade was evaluated." Order ALL the reference details at left...