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Article

Desmin c.322G>A variant is associated with cardiomyopathy: a case series.

Journal of cardiovascular medicine (Hagerstown, Md.) - 1 May 2026

Antonioli Giacomo, Cerrato Natascia, Cecconi Massimiliano, Coviello Domenico, Porto Italo, Canepa Marco, Ameri Pietro, Bertero Edoardo

Abstract excerpt

BACKGROUND: Desmin is a critical intermediate filament protein in muscle cells that maintains myofibril integrity and proper force transmission. Rare variants in the DES gene are known to cause cardiomyopathy with or without concomitant skeletal myopathy. RESULTS: We identified the c.322G>A p.(Glu108Lys) variant in the DES gene (NM_001927.4) in three unrelated patients, all of whom exhibited arrhythmic...

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Cardiomyopathies
Desmin
DES gene
Genetic Predisposition to Disease
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ventricular Dysfunction, Left

Ventricular Function, Left

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Identifiers

PMID: 42166228
DOI: 10.2459/JCM.0000000000001866

Genes

DES

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Desmin c.322G>A variant is associated with cardiomyopathy: a case series.PMID 42166228Read ↗

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