DMPK, DM1 protein kinase, 1760

N. diseases: 96; N. variants: 3
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 Biomarker group BEFREE Adenoviral overexpression of DMPK E, the isoform upregulated in heart failure, resulted in severe loss of sarcomeres in vitro, and transgenic mice overexpressing DMPK E displayed disruption of sarcomere structure and cardiomyopathy in vivo. 29648621 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 GeneticVariation group BEFREE Here we report possible de novo CTG repeat expansion in the DMPK gene in a patient with cardiomyopathy, who was not diagnosed as having myotonic dystrophy type 1 (DM1) by conventional genetic tests. 20074967 2010