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Article

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

European journal of heart failure - 1 Aug 2006

Arbustini Eloisa, Pasotti Michele, Pilotto Andrea, Pellegrini Carlo, Grasso Maurizia, Previtali Stefano, Repetto Alessandra, Bellini Ornella, Azan Gaetano, Scaffino Manuela, Campana Carlo, Piccolo Giovanni, Viganò Mario, Tavazzi Luigi

Abstract excerpt

BACKGROUND: Primary 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...

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Source

Identifiers

PMID: 16376610
DOI: 10.1016/j.ejheart.2005.11.003

Genes

DES
CRYAB
EMB

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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