SELENON-related myopathy as a cause of acute respiratory failure in middle age: a case report
This report focused on the clinical heterogeneity of SELENON-related myopathy. While we highlight that the absence of spinal rigidity and core pathology on muscle biopsy should not exclude the diagnostic suspicion, overall we stress the importance of respiratory failure as a possible late manifestation of the disease, even in middle-aged individuals.
Authors
- Mattia Bugatti (ORCID: https://orcid.org/0000-0002-5090-8338)
- Loris Poli (ORCID: https://orcid.org/0000-0003-4912-818X)
- Massimiliano Filosto (ORCID: https://orcid.org/0000-0002-2852-7512)
- Carla Baronchelli
- Gaetana Lanzi
- Barbara Risi (ORCID: https://orcid.org/0009-0008-2303-1180)
- Filomena Caria
- G. Giovanelli
- Beatrice Labella (ORCID: https://orcid.org/0000-0002-3456-3149)
- Simona Damioli (ORCID: https://orcid.org/0009-0008-0465-5262)
- E. Bertella (ORCID: https://orcid.org/0000-0001-8178-3112)
- Alessandro Padovani (ORCID: https://orcid.org/0000-0002-0119-3639)
- Lucia Ferullo (ORCID: https://orcid.org/0009-0004-7224-8213)
- Emanuele Olivieri (ORCID: https://orcid.org/0009-0002-2732-5270)
Institutions
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- University of Brescia (IT)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2025-02-20
- DOI
- https://doi.org/10.1186/s13256-025-05077-6
- Citations
- 2
- Primary Topic
- Biomedical Research and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 2.94