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desminopathies

Friday 19 March 2004

Group of diseases caused by anomalies of desmin.

Types (exemples)

- desmin myopathy

Synopsis

- granulofilamentous deposits of mutated desmin

References

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

- Wang X, Osinska H, Gerdes AM, Robbins J. Desmin filaments and cardiac disease: establishing causality. J Card Fail. 2002 Dec;8(6 Suppl):S287-92. PMID: 12555134

- Zhang J, Kumar A, Stalker HJ, Virdi G, Ferrans VJ, Horiba K, Fricker FJ, Wallace MR. Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy. Clin Genet. 2001 Apr;59(4):248-56. PMID: 11298680ΒΈ

- Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin
gene. N Engl J Med. 2000 Mar 16;342(11):770-80. PMID: 10717012

- Lobrinus JA, Janzer RC, Kuntzer T, Matthieu JM, Pfend G, Goy JJ, Bogousslavsky J. Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration. Neuromuscul Disord. 1998 Apr;8(2):77-86. PMID: 9608560

- 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