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Article

A novel desmin R355P mutation causes cardiac and skeletal myopathy.

Neuromuscular disorders : NMD - 1 Aug 2005

Fidziańska Anna, Kotowicz Jerzy, Sadowska Marta, Goudeau Bertrand, Walczak Ewa, Vicart Patrick, Hausmanowa-Petrusewicz Irena

Abstract excerpt

A novel desmin R355P mutation has been identified in a patient with familial cardiac and skeletal myopathy. Two types of desmin storage were observed in the skeletal muscles. The spheroid-like bodies dominated in type 2 fibres while extensive accumulation of granulofilamentous material was found in type 1 fibres and in cardiomyocytes. A novel missense mutation R355P in the rod domain located in the C-terminal...

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Source

Identifiers

PMID: 16009553
DOI: 10.1016/j.nmd.2005.05.006

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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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