Pathology (desminopathies)

The desmin gene is mutated in primary desminopathy (MIM.601419)
 desmin-associated myopathies
 desmin-associated cardiomyopathies

References

 Paulin D, Huet A, Khanamyrian L, Xue Z. Desminopathies in muscle disease. J Pathol. 2004 Nov;204(4):418-27. PMID: #15495235#

 Goebel HH. Desmin-related neuromuscular disorders. Muscle Nerve. 1995 Nov;18(11):1306-20. PMID: #7565929#

 Sabatelli M, Bertini E, Ricci E, Salviati G, Magi S, Papacci M, Tonali P. Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. J Neurol Sci. 1992 May;109(1):1-10. PMID: #1517757#