Desmin-Related Myofibrillar Myopathy

04/24/2009 - "An R120G mutation in alphaB-crystallin (CryAB(R120G)) causes desmin-related myopathy (DRM). "
05/01/2004 - "The R120G mutation in alphaB-crystallin causes desmin-related myopathy. "
06/01/2003 - "A point mutation, R120G, in alphaB-crystallin that is associated with desmin-related myopathy, results in a significant loss of chaperone-like activity. "
02/14/2003 - "Also alphaB-crystallin R120G, a mutant found to co-segregate with a desmin-related myopathy, displayed increased interaction with FBX4. "
11/19/1999 - "Desmin-related myopathy is one of several diseases characterized by the coaggregation of intermediate filaments with alphaB-crystallin, and it identifies intermediate filaments as important physiological substrates for alphaB-crystallin. "

06/01/2002 - "Thus, we developed a cellular model for the study of this R120G alpha B-crystallin-related desmin-related myopathy. "
06/01/2003 - "Hsp27 suppresses the formation of inclusion bodies induced by expression of R120G alpha B-crystallin, a cause of desmin-related myopathy."
01/01/2003 - "Moreover, transgenic mice expressing R120G alpha B-crystallin exhibit symptoms similar to desmin-related myopathy. "
01/01/2003 - "Recently, a missense mutation in alpha B-crystallin, R120G, has been found in a French family suffering from desmin-related myopathy. "
06/01/2003 - "The R120G mutation in the small heat shock protein (sHSP) alpha B-crystallin has been identified in a family suffering from desmin-related myopathy. "

01/01/2022 - "Expression of p.R406W mutant desmin, identified in patients with desmin-related myopathy, modified focal adhesion area and expression of adhesion-signaling genes in myogenic C2C12 cells. "
01/01/2020 - "Desmin-related myopathy (DRM) is a rare heritable cardiac and skeletal muscle disease caused by mutations in the desmin gene (DES). "
10/01/2013 - "Desmin-related myopathy is a rare familial disorder of the cardiac and skeletal muscle characterized by intrasarcoplasmic accumulation of desmin-reactive deposits in the muscle cells. "
09/01/2007 - "This is the 5th reported missense mutation located at the 'head' domain of the desmin gene and the first reported Dutch family with desmin-related myopathy. "
09/01/2007 - "Mutations in the desmin gene have been described as a cause of desmin-related myopathy (OMIM 601419). "

02/01/2006 - "Protein misfolding and aberrant aggregation are associated with many severe disorders, such as neural degenerative diseases, desmin-related myopathy (DRM), and congestive heart failure. "
08/01/2010 - "Mutations in the gene encoding desmin (DES), an intermediate filament protein, underlie a heterogeneous phenotype, which is referred to as desmin-related myopathy (DRM). "
12/01/2004 - "A missense mutation (R120G) in CryAB that is linked to human desmin-related myopathy (DRM), has proved in transgenic (TG) mice to be causative, likely through compromising the function of both CryAB and desmin filaments and inducing aberrant protein aggregation. "
10/01/2011 - "Desmin-related myopathy can be caused by mutations in desmin or associated proteins, which leads to intracellular accumulation of misfolded protein and production of soluble pre-amyloid oligomers, which leads to weakened skeletal and cardiac muscle. "
04/03/2007 - "The R120G mutation in the small heat shock-like protein alphaB-crystallin (CryAB(R120G)) causes desmin-related myopathy (DRM), which is characterized by the formation of desmin- and CryAB-containing aggregates within muscle fibers. "

05/01/2004 - "Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene."
07/01/2006 - "Mutations of selenoprotein N, 1 gene (SEPN1) cause rigid spine with muscular dystrophy type 1 (RSMD1), multiminicore disease, and desmin-related myopathy. "
01/15/2011 - "Selenoprotein N-related myopathy (SEPN1-RM) is an early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity and can result in specific pathological entities such as multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and congenital fiber-type disproportion. "
05/01/2008 - "The selenoprotein N1-related myopathies comprise rigid spine muscular dystrophy, the "classical" form of multiminicore disease, a desmin-related myopathy with Mallory body like inclusions and a form of congenital fiber-type disproportion. "

06/01/2003 - "The R120G mutation in the small heat shock protein (sHSP) alpha B-crystallin has been identified in a family suffering from desmin-related myopathy. "
02/01/2000 - "Recently, a single mutation in the small heat-shock protein human alphaB-crystallin was linked to desmin-related myopathy, which is characterized by abnormal intracellular aggregates of intermediate filaments in human muscle. "
06/01/2002 - "We also observed that the protective effect against stress of alpha B-crystallin is altered upon glucocorticoid-induced small heat shock protein expression for the desmin-related myopathy-derived cells."
06/01/2002 - "Glucocorticoid treatment induces expression of small heat shock proteins in human satellite cell populations: consequences for a desmin-related myopathy involving the R120G alpha B-crystallin mutation."

10/01/1996 - "Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy."
03/16/2000 - "We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes. "

02/01/2005 - "One of its two subunits, alphaB-crystallin, is also expressed in many nonlenticular tissues, and a natural missense mutation, R120G, has been associated with cataract and desmin-related myopathy, a disorder of skeletal muscles [Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D & Fardeau M (1998) Nat Genet20, 92-95]. "
05/25/1999 - "Recently, it has been shown that a missense mutation in alphaB-crystallin, R120G, is genetically linked to a desmin-related myopathy as well as to cataracts [Vicart, P., Caron, A., Guicheney, P., Li, A., Prevost, M.-C., Faure, A., Chateau, D., Chapon, F., Tome, F., Dupret, J.-M., et al. (1998) Nat. Genet. "

04/07/2006 - "These observations suggest that the Arg157His mutation may be involved in the pathogenesis of DCM via impaired accommodation to the heart-specific N2B domain of titin/connectin and its disease-causing mechanism is different from the mutation found in desmin-related myopathy."

04/07/2006 - "In contrast, another CRYAB mutation, Arg120Gly, reported in desmin-related myopathy decreased the binding to both N2B and striated muscle-specific I26/27 domains and showed intracellular aggregates of the mutant protein. "

01/01/2021 - "We aimed to determine the genetic and clinical phenotypes of patients with desmin-related myopathy and long-term outcomes after cardiac transplantation. "
01/01/2021 - "Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation."
05/01/2013 - "There was one desmin related myopathy with ARVD, who had cardiac transplantation and both skeletal and cardiac muscle showed characteristic rimmed vacuoles and inclusions positive for desmin. "

04/01/2004 - "Prophylactic implantable cardioverter defibrillator placement in a sporadic desmin related myopathy and cardiomyopathy."

01/01/2015 - "Understanding the mitochondrial pathophysiology of desmin-related myopathy highlights the possibility of new therapies for this otherwise untreatable and often fatal class of disease. "

02/01/2004 - "The expression of SSAO was examined immunohistochemically in muscle biopsy specimens from patients with inclusion-body myositis (IBM; n = 5), desmin-related myopathy (DRM; n = 3), dermatomyositis (n = 3), granulomatous (sarcoid) myopathy (n = 2), muscle denervation-reinnervation (n = 3), and rhabdomyolysis (n = 2), as well as from control subjects (n = 3). "