SIGMAR1 gene-related neuromuscular disorders — what do we know?
This article supports the pathogenicity of the c.247T > C (p.Phe83Leu) SIGMAR1 variant and underlines the need for broader genetic testing in hereditary motor neuropathies.
Authors
- Anna Potulska‐Chromik (ORCID: https://orcid.org/0000-0002-8332-1090)
- Maria Jędrzejowska (ORCID: https://orcid.org/0000-0002-2820-9362)
- Tomasz Stokłosa (ORCID: https://orcid.org/0000-0001-6918-5056)
- Marta Lipowska (ORCID: https://orcid.org/0000-0002-9214-8867)
- Karolina Aragon‐Gawinska (ORCID: https://orcid.org/0000-0002-6447-6388)
- Anna Kostera‐Pruszczyk (ORCID: https://orcid.org/0000-0002-7309-1914)
- Maria Franaszczyk (ORCID: https://orcid.org/0000-0002-0719-1933)
- Maciej Kalita (ORCID: https://orcid.org/0009-0002-6636-0503)
Institutions
- Medical University of Warsaw (PL)
Publication Details
- Journal
- Neurologia i Neurochirurgia Polska
- Published
- 2025-12-03
- DOI
- https://doi.org/10.5603/pjnns.106304
- Primary Topic
- Pharmacological Receptor Mechanisms and Effects
- Type
- article
- Field-Weighted Citation Impact
- 0.00