Desmin-Related Cardiomyopathy

Desmin-Related Cardiomyopathy (DRM) is a neuromuscular disorder mainly associated with mutations in the desmin gene (DES). Desmin is a protein that is critical for cytoskeletal organization and maintaining cardiomyocyte structure. DRM is characterized by cytoplasmic aggregates of misfolded protein in inclusion bodies that reside in the perinuclear region of cardiomyocytes.