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desminopathies

 

Group of diseases caused by anomalies of desmin.

References

-  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#

-  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#


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