DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 GeneticVariation group 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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 GeneticVariation group BEFREE Molecular genetic studies have delineated the gene for BTHS, which maps to distal Xq28, from the gene for so called X linked dilated cardiomyopathy (XLCM), a teenage onset dilated cardiomyopathy, recently mapped to the 5' portion of the dystrophin locus at Xp21. 7616547 1995
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 GeneticVariation group 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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 Biomarker group BEFREE Molecular analysis of the Duchenne muscular dystrophy (DMD) gene was performed on 4 unrelated patients with Becker muscular dystrophy (BMD) presenting with dilated cardiomyopathy. 8413368 1993
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 CausalMutation group CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 Biomarker group HPO