Home > E. Pathology by systems > Locomotory system > Muscles > desmin myopathy
desmin myopathy
Saturday 16 April 2005
In patients with cardiomyopathy associated with the skeletal myopathy, desmin is the most commonly expressed protein, and the term, "desmin myopathy," is sometimes used.
Desmin, a 52kD intermediate filament protein, is found in cardiac, skeletal, and some smooth muscle cells, and is responsible for structural integrity of cardiac myofibrils. Various missense mutations of the desmin gene have been reported.
Synopsis
desmin skeletal myopathy desmin cardiomyopathy desmin leiomyopathy
See also
desminopathies
Synopsis
granulofilamentous deposits of mutated desmin
References
Ariza A, Coll J, Fernandez-Figueras MT, Lopez MD, Mate JL, Garcia O, Fernandez-Vasalo A, Navas-Palacios JJ. Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. Hum Pathol. 1995 Sep;26(9):1032-7. PMID: 7672786