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Article

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.

International journal of molecular sciences - 14 Dec 2022

Onore Maria Elena, Savarese Marco, Picillo Esther, Passamano Luigia, Nigro Vincenzo, Politano Luisa

Abstract excerpt

Mutations in the human desmin gene (DES) may cause both autosomal dominant and recessive cardiomyopathies leading to heart failure, arrhythmias and atrio-ventricular blocks, or progressive myopathies. Cardiac conduction disorders, arrhythmias and cardiomyopathies usually associated with progressive myopathy are the main manifestations of autosomal dominant desminopathies, due to mono-allelic pathogenic variants....

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Open in PubMed Open full text

Identifiers

PMID: 36555543
DOI: 10.3390/ijms232415906
PMCID: PMC9785402

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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