Article
Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies.
Journal of medical genetics - 20 Mar 2026
Castañeda Sheila Lucia, Amin Guadalupe, Freiberger Maria Ines, Zabalegui Federico, Renes Sol, Fernandez Agata, Rosa Alberto Luis, Cejas Claudia, Pastor Rueda Jose Manuel, Waisman Ariel, Ferreiro Diego, Sevlever Gustavo, Miriuka Santiago, Moro Lucia Natalia
Abstract excerpt
BACKGROUND: Desmin (DES) is a major intermediate filament protein involved in the structural integrity and function of striated muscles. Pathogenic mutations in DES are predominantly missense variants, causing isolated cardiomyopathy and combinations of myopathy and cardiomyopathy. In-frame insertions are very rare and usually classified as variants of uncertain significance or likely pathogenic due to limited...
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