Article

A Novel Variant in the Desmin Gene: Case Report

2026-06-26

Abstract excerpt

Desminopathies are rare myofibrillar myopathies caused by variants in the desmin (DES) gene on chromosome 2q35, encoding the protein desmin. These variants, typically autosomal dominant missense, result in diverse clinical phenotypes, including progressive skeletal myopathy and cardiac involvement. Over 180 pathogenic variants and 700 variants of uncertain significance have been reported. We describe a 46-year-old...

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Literature Corpus work: ea83da1a-cb86-58d4-97bb-7c02caadb7c1
DOI: 10.20944/preprints202606.1813.v1

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