Desmin is one of the earliest protein markers for muscle tissue in embryogenesis as it is detected in the somites. Although it is present early in the development of muscle cells, it is only expressed at low levels, and increases as the cell nears terminal differentiation. Desmin is also important in muscle cell architecture and structure since it connects many components of the cytoplasm. Finally, desmin may be important in mitochondria function. Desmin-related myopathy (DRM or Desminopathy) is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein filaments, instead forming aggregates of desmin and other proteins throughout the cell. Recently, mutations were identified in patients suffered by an arrhythmogenic right ventricular cardiomyopathy (ARVC).

1."De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy." Klauke B., Kossmann S., Gaertner A., Brand K., Stork I., Brodehl A., Dieding M., Walhorn V., Anselmetti D., Gerdes D., Bohms B., Schulz U., Zu Knyphausen E., Vorgerd M., Gummert J., Milting H.Hum. Mol. Genet. 19:4595-4607(2010)
2."Desmin mutations and arrhythmogenic right ventricular cardiomyopathy." Lorenzon A., Beffagna G., Bauce B., De Bortoli M., Li Mura I.E., Calore M., Dazzo E., Basso C., Nava A., Thiene G., Rampazzo A. Am. J. Cardiol. 111:400-405(2013)