desminopathies
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: #11298680#ΒΈ
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#