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Article

Severe myopathy mutations modify the nanomechanics of desmin intermediate filaments.

Journal of molecular biology - 30 Jan 2009

Kreplak L, Bär H

Abstract excerpt

Mutations in the intermediate filament (IF) protein desmin cause severe forms of myofibrillar myopathy characterized by partial aggregation of the extrasarcomeric desmin cytoskeleton and structural disorganization of myofibrils. In contrast to prior expectations, we showed that some of the known disease-causing mutations, such as DesA360P, DesQ389P and DesD399Y, are assembly-competent and do allow formation of...

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Identifiers

PMID: 19026658
DOI: 10.1016/j.jmb.2008.10.095

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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