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Article

Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies.

Cell reports - 16 Jun 2015

Ramspacher Caroline, Steed Emily, Boselli Francesco, Ferreira Rita, Faggianelli Nathalie, Roth Stéphane, Spiegelhalter Coralie, Messaddeq Nadia, Trinh Le, Liebling Michael, Chacko Nikhil, Tessadori Federico, Bakkers Jeroen, Laporte Jocelyn, Hnia Karim, Vermot Julien

Abstract excerpt

Desminopathies belong to a family of muscle disorders called myofibrillar myopathies that are caused by Desmin mutations and lead to protein aggregates in muscle fibers. To date, the initial pathological steps of desminopathies and the impact of desmin aggregates in the genesis of the disease are unclear. Using live, high-resolution microscopy, we show that Desmin loss of function and Desmin aggregates promote...

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Identifiers

PMID: 26051936
DOI: 10.1016/j.celrep.2015.05.010

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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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