restrictive cardiomyopathy
isolated
- desmin mutations
- alpha-B crystallin mutations
associated
- amyloidosis
- endocardial fibrosis
References
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#
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