DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Muscle damage ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 AlteredExpression phenotype BEFREE The deficiency in dystrophin and drastic reduction in dystrophin-associated proteins appears to trigger (i) enhanced membrane repair involving myoferlin, dysferlin and annexins, (ii) increased protein synthesis and the compensatory up-regulation of cytoskeletal proteins, (iii) the decrease in the scaffolding protein periaxin and myelin PO involved in myelination of motor neurons, (iv) complex changes in bioenergetic pathways, (v) elevated levels of molecular chaperones to prevent proteotoxic effects, (vi) increased collagen deposition causing reactive myofibrosis, (vii) disturbed ion homeostasis at the sarcolemma and associated membrane systems, and (viii) a robust inflammatory response by the innate immune system in response to chronic muscle damage. 29408692 2019
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE Taken together, our findings challenge the long-held perception of eosinophils as cytotoxic in dystrophin-deficient muscle; we show clearly that eosinophil infiltration is not a driving force behind acute muscle damage in the mdx mouse strain. 31142604 2019
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE Therefore, to determine the impact of the absence of dystrophin on metabolism, we investigated the metabolic and lipid profile at two different, well-defined stages of muscle damage and stabilization in mdx mice. 30848538 2019
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE In the mdx mouse, dystrophin absence not only causes muscle damage but also mild synaptic dysfunctions and clear morphological aberrations at NMJs. 29631954 2018
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE Muscle damage in Duchenne muscular dystrophy (DMD) caused by the lack of dystrophin is strongly linked to inflammation. 29669436 2018
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE Since dystrophin is essential in maintaining the integrity of the sarcolemmal membrane, the absence of the protein leads to muscle damage and DMD disease manifestation. 29173172 2017
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE These results suggest that urinary N-ter titin is present at low basal concentrations in normal urine and increases dramatically coincident with muscle damage produced by dystrophin deficiency. 28554556 2017
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE Loss of dystrophin in DMD patients results in a fragile sarcolemma prone to contraction-induced muscle damage. 28391962 2017
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE Lack of a functional dystrophin is primarily responsible for the muscle eccentric contraction-induced muscle damage, observed in dystrophic muscle. 28089792 2017
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 AlteredExpression phenotype BEFREE Absence or reduced expression of dystrophin or many of the DPC components cause the muscular dystrophies, a group of inherited diseases in which repeated bouts of muscle damage lead to atrophy and fibrosis, and eventually muscle degeneration. 26676145 2016
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 AlteredExpression phenotype BEFREE It has been reported that DM1 patients show elevated levels of markers of muscle damage or loss of sarcolemmal integrity in their serum and that splicing of dystrophin, an essential protein for muscle membrane structure, is abnormal. 25799359 2015
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE The mechanism of muscle damage is reviewed starting from disarray of the shock-absorbing dystrophin-associated complex at the sarcolemma and activation of inflammatory response up to the final stages of fibrosis. 25086336 2015
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 AlteredExpression phenotype BEFREE These findings suggest that the dystrophin levels needed to benefit vitality and functioning of patients with DMD might be lower than those needed for full protection against muscle damage. 23460734 2013
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE The presence of the CT domain of dystrophin in MD2 increased the recruitment of α1-syntrophin and α-dystrobrevin at the sarcolemma and significantly improved the muscle resistance to lengthening contraction-induced muscle damage in the mdx mice compared with MD1. 21453126 2011
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE Loss of dystrophin results in reduced sarcolemmal integrity and increased susceptibility to muscle damage. 19416897 2009
CUI: C0410158
Disease: Muscle damage
Muscle damage 		0.100 Biomarker phenotype BEFREE The results emphasize the close association between dystrophin and the glycoprotein complex and their role in the pathogenesis of muscle damage. 7881285 1995