SYNM, synemin, 23336

N. diseases: 93; N. variants: 1
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 AlteredExpression group LHGDN In the present study, the distribution of synemin was examined using immunohistochemistry in muscle biopsy specimens from patients suffering from myofibrillar myopathy (MM, n=6), dermatomyositis (DM, n=3), inclusion body myositis (IBM, n=5), oculopharyngeal muscular dystrophy (OPD, n=3) and denervation atrophy (DA, n=3), to investigate the possible participation of this protein in the pathogenesis of various muscular diseases. 12669240 2003
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 GeneticVariation group BEFREE The desmuslin gene was screened for mutations in 71 patients with various forms of myopathy for which there was no known cause. 11454237 2001