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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#

Portfolio

  • Desmin in desmoplastic small round cell tumor
  • Desmin in desmoplastic small round cell tumor