DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Muscle Weakness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 AlteredExpression phenotype BEFREE We found that dystrophin levels comprised between 29% and 57% were sufficient to avoid muscle weakness in these XLDC families. 17826093 2007
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 AlteredExpression phenotype BEFREE The lack of muscle weakness observed clinically can be explained by expression of the brain and Purkinje dystrophin isoforms in skeletal muscle. 17715288 2007
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. 16380627 2005
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 AlteredExpression phenotype BEFREE We report three cases who presented with only mild or no muscle weakness but had elevated serum creatine kinase activity and dystrophin immunolabelling indistinguishable from normal, making a pathological diagnosis difficult. 15488030 2004
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 GeneticVariation phenotype BEFREE Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. 12868501 2003
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE Abnormalities of dystrophin are a common cause of muscular dystrophy and testing for dystrophin gene or protein has become a part of routine diagnostic evaluation of patients who present with progressive proximal muscle weakness, high serum creatine kinase concentrations, and histopathological evidence of a dystrophic process. 11303236 2001
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE Each had abnormal dystrophin immunostaining in muscle or cardiac biopsy specimens, but neither had muscle weakness. 9470882 1997
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 GeneticVariation phenotype BEFREE We have previously shown in a large X-linked pedigree that a deletion removing the dystrophin muscle promoter, the first muscle exon and part of intron 1 caused a severe dilated cardiomyopathy with no associated muscle weakness. 7635962 1995
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 GeneticVariation phenotype BEFREE We recently described a family where a deletion of the dystrophin gene was associated with a severe dilated cardiomyopathy without skeletal muscle weakness. 7825571 1995
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE It is speculated that overexpression of the dystrophin-related protein in regenerating muscle fibers may contribute to the slow progression of muscle weakness or atrophy. 8352853 1993
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 AlteredExpression phenotype BEFREE Ten females presenting with muscle weakness and a raised serum creatine kinase revealed abnormalities in the expression of dystrophin in their muscle biopsies and were diagnosed as manifesting carriers of Xp21 Duchenne/Becker muscular dystrophy. 8358239 1993
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype BEFREE An apparently identical deletion in one family gave classical BMD in two brothers (presenting in their teens) and only very mild muscle weakness in their 86-year-old great-great-uncle. 2821406 1987
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 Biomarker phenotype HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.500 CausalMutation phenotype CLINVAR