Home > A. Molecular pathology > desmin
desmin
Friday 19 March 2004
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
