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Article

Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C-Terminus of segment 2B.

Journal of cellular physiology - 1 May 2024

Geryk Michelle, Charpentier Flavien

Abstract excerpt

Desmin, the most abundant intermediate filament in cardiomyocytes, plays a key role in maintaining cardiomyocyte structure by interconnecting intracellular organelles, and facilitating cardiomyocyte interactions with the extracellular matrix and neighboring cardiomyocytes. As a consequence, mutations in the desmin gene (DES) can lead to desminopathies, a group of diseases characterized by variable and often...

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Identifiers

PMID: 38501553
DOI: 10.1002/jcp.31254

Genes

DES

Provenance

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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