DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Myofibrillar Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE Desmin is an intermediate filament protein typically associated with autosomal dominant myofibrillar myopathy with cardiac involvement. 31024060 2019
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease BEFREE Desmin-associated myofibrillar myopathy (MFM) has pathologic similarities to neurodegeneration-associated protein aggregate diseases. 31371504 2019
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease BEFREE We propose that in MFM horses, altered cysteine metabolism and a deficiency of cysteine-containing antioxidants combined with a high capacity to oxidize fatty acids and generate ROS during aerobic exercise causes chronic oxidation and aggregation of key proteins such as desmin. 30289745 2018
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease CTD_human 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 30055862 2018
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease BEFREE Familial PAM includes myofibrillar myopathies defined by the presence of desmin-positive protein aggregates and degenerative intermyofibrillar network changes. 29924655 2018
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease BEFREE Skeletal muscle biopsy revealed the morphological picture of myofibrillar myopathy with sarcoplasmic aggregates, immunoreactive for desmin and other ectopic proteins on immunohistochemistry, appearing as granulofilamentous material at ultrastructural level. 28523323 2017
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease BEFREE Our data suggest that mutated desmin already markedly impedes myocyte structure and function at pre-symptomatic stages of myofibrillar myopathies. 28469177 2017
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease BEFREE Desmin-related cardiomyopathy is a heterogeneous group of myofibrillar myopathies characterized by aggregates of desmin and related proteins in myocytes. 28341603 2017
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE Desminopathies belong to a family of muscle disorders called myofibrillar myopathies that are caused by Desmin mutations and lead to protein aggregates in muscle fibers. 26051936 2015
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE Two desmin gene mutations associated with myofibrillar myopathies in Polish families. 25541946 2014
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease BEFREE Desmin, the muscle-specific intermediate filament, is involved in myofibrillar myopathies, dilated cardiomyopathy and muscle wasting. 24091796 2014
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy. 23815709 2013
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE Three mutant desmin variants were detected directly on the protein level as components of the aggregates, suggesting their direct involvement in aggregate-formation and demonstrating for the first time that proteomic analysis can be used for direct identification of a disease-causing mutation in myofibrillar myopathy. 23639843 2013
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE Here, we analyse myoblasts behaviour in the context of myofibrillar myopathy resulting from p.D399Y desmin mutation which disorganizes the desmin IF network in muscle cells. 23234811 2013
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE Mutations within the human desmin gene are responsible for a subcategory of myofibrillar myopathies called desminopathies. 24098483 2013
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE Dependent on the MFM causing mutation, different sets of proteins were revealed as genuine (accumulated) plaque components in independent technical replicates: (i) αB-crystallin, desmin, filamin A/C, myotilin, PRAF3, RTN2, SQSTM, XIRP1, and XIRP2 (patient with defined MFM mutation distinct from FHL1) or (ii) desmin, FHL1, filamin A/C, KBTBD10, NRAP, SQSTM, RL40, XIRP1, and XIRP2 (patient with FHL1 mutation). 23044792 2012
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487 2012
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease BEFREE Disease associated with mutations in filamin C rod domain leading to expression of a toxic protein presents with progressive proximal muscle weakness and shows focal destructive lesions of polymorphous aggregates containing desmin, myotilin and other proteins in the affected myofibres; these features correspond to the profile of myofibrillar myopathy. 22961544 2012
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease CTD_human Desmin-related myopathy. 20718792 2011
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 20448486 2010
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease BEFREE Muscle biopsy demonstrated signs of myofibrillar myopathy with prominent subsarcolemmal desmin-reactive aggregates. 19433360 2009
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE Mutations in the desmin gene cause myofibrillar myopathy characterized by desmin-positive aggregates and myofibrillar dissolution. 19763525 2009
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE While MFMs are partly caused by mutations in genes encoding for extramyofibrillar proteins (desmin, alphaB-crystallin, plectin) or myofibrillar proteins (myotilin, Z-band alternatively spliced PDZ-containing protein, filamin C, Bcl-2-associated athanogene-3, four-and-a-half LIM domain 1), a large number of these diseases are caused by still unresolved gene defects. 19563540 2009
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 GeneticVariation disease BEFREE The ultrastructural findings in 19 patients with different genetically proven MFMs (9 desmin, 5 alphaB-crystallin, 3 ZASP, 2 myotilin) were analyzed. 18653338 2008
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 Biomarker disease BEFREE Skeletal and cardiac muscle from patients with primary desminopathies characteristically display cytoplasmic accumulation of desmin-immunoreactive material and myofibrillar changes. 17635637 2007