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Lmna-Related Congenital Muscular Dystrophy

mutations in LMNA

Also Known As:

Muscular Dystrophy, Congenital, Lmna-Related; Mdcl

Networked: 15 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Muscular Dystrophies (Muscular Dystrophy)
2.	Muscular Diseases (Myopathy)
3.	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy)
4.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
5.	Inclusion Body Myositis

Experts

1.	Butler-Browne, Gillian: 1 article (01/2020)
2.	Coirault, Catherine: 1 article (01/2020)
3.	Fischer, Martina: 1 article (01/2020)
4.	Jabre, Saline: 1 article (01/2020)
5.	Mamchaoui, Kamel: 1 article (01/2020)
6.	Moog, Sophie: 1 article (01/2020)
7.	Owens, Daniel J: 1 article (01/2020)
8.	Arandel, Ludovic: 1 article (03/2018)
9.	Azibani, Feriel: 1 article (03/2018)
10.	Benkhelifa-Ziyyat, Sofia: 1 article (03/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lmna-Related Congenital Muscular Dystrophy:

1.	2- methyl- 6- (4- methoxyphenyl)- 3,7- dihydroimidazo(1,2- alpha)pyrazin- 3- one (MCLA)IBA 11/15/2010 - "Here we report that a number of sulfur-containing compounds applied in biochemical and cytological studies are able to suppress MCLA-derived chemiluminescence (MDCL) independent of their capability to scavenge superoxide anion. " 01/01/1995 - "These opsonized zymosans caused not only detectable neutrophil superoxide anion generation evaluated by an MCLA-dependent CL (MDCL) assay, with the order of light emission being IC3Z > IgGZ > C3Z, but also a transient rise of neutrophil [Ca2+]i measured by an aequorin-dependent CL (ADCL) assay. " 01/01/1995 - "Functionally, AD-source eosinophils showed an enhanced MCLA-dependent chemiluminescence (MDCL) responsiveness to the eosinophilopoietic cytokines, with the characteristics that interleukin-5 (IL-5)-induced MDCL responses strongly correlated with EG2+ eosinophil proportions, whereas both IL-3- and granulocyte-macrophage colony-stimulating factor (GM-CSF)-induced MDCL responses rather significantly correlated with the degree of blood eosinophilia. " 01/01/1995 - "Luminol-dependent CL (LDCL) and MCLA-dependent CL (MDCL) in a hypoxanthine (HX)/xanthine oxidase (XOD) system, both of which were completely inhibited by superoxide dismutase, were a linear function of the XOD concentration, with the relationship formula being LDCL = 0.003 x MDCL. "
2.	Superoxides (Superoxide)IBA 01/01/1995 - "However, there was no interference by these two drugs with the measurement of MDCL in the hypoxanthine/xanthine oxidase superoxide anion generation system. " 11/15/2010 - "Here we report that a number of sulfur-containing compounds applied in biochemical and cytological studies are able to suppress MCLA-derived chemiluminescence (MDCL) independent of their capability to scavenge superoxide anion. " 01/01/1995 - "These opsonized zymosans caused not only detectable neutrophil superoxide anion generation evaluated by an MCLA-dependent CL (MDCL) assay, with the order of light emission being IC3Z > IgGZ > C3Z, but also a transient rise of neutrophil [Ca2+]i measured by an aequorin-dependent CL (ADCL) assay. "
3.	SulfurIBA 11/15/2010 - "Here we report that a number of sulfur-containing compounds applied in biochemical and cytological studies are able to suppress MCLA-derived chemiluminescence (MDCL) independent of their capability to scavenge superoxide anion. "
4.	Xanthine OxidaseIBA 11/15/2010 - "The analysis of MDCL kinetics in a xanthine oxidase system allows one to rapidly discriminate between true antioxidants and the quenchers of chemiluminescence." 01/01/1995 - "However, there was no interference by these two drugs with the measurement of MDCL in the hypoxanthine/xanthine oxidase superoxide anion generation system. " 01/01/1995 - "Luminol-dependent CL (LDCL) and MCLA-dependent CL (MDCL) in a hypoxanthine (HX)/xanthine oxidase (XOD) system, both of which were completely inhibited by superoxide dismutase, were a linear function of the XOD concentration, with the relationship formula being LDCL = 0.003 x MDCL. "
5.	Toll-Like Receptors (Toll-Like Receptor)IBA 01/01/2018 - "DMD, Duchenne muscular dystrophy; EDMD2, Emery-Dreifuss muscular dystrophy type 2; FSHD, facio-scapulo-humeral muscular dystrophy; LGMD1B, limb-girdle muscular dystrophy type 1B; LMNA-CMD, LMNA-related congenital muscular dystrophy; LMNA-RM, LMNA-related myopathies; sIBM, sporadic inclusion body myositis; TLR, Toll-like receptor."
6.	Lamin Type A (Lamin A)IBA 11/01/2010 - "LMNA-related congenital muscular dystrophy (L-CMD) is a recently described disorder characterized by infantile-onset myopathy due to mutations in the lamin A/C (LMNA) gene. "
7.	LaminsIBA 01/01/2020 - "Mutations in the LMNA gene, encoding the nuclear envelope A-type lamins, are responsible for muscular dystrophies, the most severe form being the LMNA-related congenital muscular dystrophy (L-CMD), with severe defects in myonucleus integrity. "
8.	Small Interfering RNA (siRNA)IBA 08/01/2015 - "A MINIMAL DICER-LIKE (mDCL) gene, which lacks the N-terminal helicase domain typical of DCL proteins, is specifically required for 23-nucleotide siRNA accumulation. "
9.	Matrix Metalloproteinase 1 (Interstitial Collagenase)IBA 03/01/2001 - "Cell-cell contact of myeloma-derived cell lines (MDCL) or fresh myeloma cells with bone marrow stromal cells (BMSC) is known to induce interleukin-6 (IL-6) and matrix metalloproteinase-1 (MMP-1) production by a marrow stromal cell line. "
10.	HypoxanthineIBA 01/01/1995 - "Luminol-dependent CL (LDCL) and MCLA-dependent CL (MDCL) in a hypoxanthine (HX)/xanthine oxidase (XOD) system, both of which were completely inhibited by superoxide dismutase, were a linear function of the XOD concentration, with the relationship formula being LDCL = 0.003 x MDCL. "

Therapies and Procedures

1.	Lasers (Laser) 02/19/2018 - "The MDCL has a very large number of degrees of freedom (320,000 modes in our system) that can be coupled and controlled, and allows direct access to both the real space and Fourier space of the laser beam. " 02/19/2018 - "The method is based on the modified degenerate cavity laser (MDCL), which is a highly incoherent cavity laser. "