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Article

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.

HGG advances - 11 Apr 2024

Geist Hauserman Janelle, Laverty Chamindra G, Donkervoort Sandra, Hu Ying, Silverstein Sarah, Neuhaus Sarah B, Saade Dimah, Vaughn Gabrielle, Malicki Denise, Kaur Rupleen, Li Yuesheng, Luo Yan, Liu Poching, Burr Patrick, Foley A Reghan, Mohassel Payam, Bönnemann Carsten G

Abstract excerpt

Pathogenic variants in the DES gene clinically manifest as progressive skeletal muscle weakness, cardiomyopathy with associated severe arrhythmias, and respiratory insufficiency, and are collectively known as desminopathies. While most DES pathogenic variants act via a dominant mechanism, recessively acting variants have also been reported. Currently, there are no effective therapeutic interventions for...

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Identifiers

PMID: 38358893
DOI: 10.1016/j.xhgg.2024.100274
PMCID: PMC10876619

Genes

DES

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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