Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies
These findings are consistent with the idea that p.Glu353dup is a pathogenic variant, supported by clinical studies, in silico protein modelling and functional evidence, highlighting the impact of in-frame insertions on DES filament homeostasis. By providing computational and experimental evidence, this study expands our understanding of desminopathies and offers new perspectives for pathogenicity assessment of uncertain DES variants.
Authors
- Diego U. Ferreiro (ORCID: https://orcid.org/0000-0002-7869-4247)
- Claudia Cejas (ORCID: https://orcid.org/0000-0002-3038-3116)
- Santiago Miriuka (ORCID: https://orcid.org/0000-0003-2402-3920)
- Lucía Moro (ORCID: https://orcid.org/0000-0002-6017-1181)
- Guadalupe Amín (ORCID: https://orcid.org/0009-0004-5942-7524)
- Gustavo Emilio Sevlever (ORCID: https://orcid.org/0000-0002-9567-7553)
- José Manuel Pastor Rueda
- María Inés Freiberger (ORCID: https://orcid.org/0000-0002-5634-1897)
- Federico Zabalegui (ORCID: https://orcid.org/0009-0006-4617-3101)
- Sol Renes
- Sheila Lucía Castañeda
- Agata Fernandez
- Ariel Waisman
- Alberto Luis Rosa
Institutions
- Universidad Nacional de Córdoba (AR)
- Universidad de Buenos Aires (AR)
- Centrus Diagnósticos por Imagem (BR)
- Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (AR)
- Instituto de Neurología de Buenos Aires (AR)
- Fundación Ciencias Exactas y Naturales (AR)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-12-31
- DOI
- https://doi.org/10.1136/jmg-2025-110852
- Citations
- 1
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 1.15