Linked Life Data

16376610

Source:http://linkedlifedata.com/resource/pubmed/id/16376610

Statements in which the resource exists.
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pubmed-article:16376610pubmed:abstractTextPrimary desminopathies are caused by desmin gene [DES (MIM*125660)] mutations. The clinical spectrum includes pure myopathies, cardiomuscular diseases and cardiomyopathies. Patients with restrictive cardiomyopathy (RCM) plus atrioventricular block (AVB) due to DES defects are frequently unrecognized unless desmin accumulation is specifically investigated in endomyocardial biopsy (EMB) by ultrastructural study.lld:pubmed
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pubmed-article:16376610pubmed:articleTitleDesmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.lld:pubmed
pubmed-article:16376610pubmed:affiliationMolecular Diagnostic Laboratory, I.R.C.C.S. Policlinico San Matteo, Pavia, Italy. e.arbustini@smatteo.pv.itlld:pubmed
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