Condition: CARDIOMYOPATHY, DILATED, 1I


rs121913002 in DES gene and CARDIOMYOPATHY, DILATED, 1I PMID 10430757 1999 Desmin mutation responsible for idiopathic dilated cardiomyopathy.

PMID 26724190 2016 Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.

PMID 24200904 2013 The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.