Clinical and Genetic Spectrum of RYR1-Related Disease
<i>RYR1</i> is known to be the gene most associated with MH. It is very important to manage and take precautions against possible comorbidities and anesthesia complications. For this reason, we think that <i>RYR1</i> analyses should be given priority in the diagnostic algorithm.
Authors
- Pınar Gençpınar (ORCID: https://orcid.org/0000-0002-3223-5408)
- Yiğithan Güzin (ORCID: https://orcid.org/0000-0002-8748-5586)
- Hande Gazeteci Tekin (ORCID: https://orcid.org/0000-0002-4407-164X)
- Gamze Sarıkaya Uzan (ORCID: https://orcid.org/0000-0002-5028-9995)
- Nihal Olgaç Dündar (ORCID: https://orcid.org/0000-0002-5902-3501)
- Berk Özyılmaz (ORCID: https://orcid.org/0000-0003-2654-3698)
- Figen Baydan (ORCID: https://orcid.org/0000-0001-6853-6555)
- Gizem Doğan (ORCID: https://orcid.org/0000-0002-2913-717X)
Institutions
- Izmir University (TR)
- Izmir Kâtip Çelebi University (TR)
- Sağlık Bilimleri Üniversitesi (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1159/000545612
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 0.00