Clinical and Genetic Characterization of a Novel RYR1 Variant (p.Gln474His) in Malignant Hyperthermia Susceptibility
This case underscores the importance of integrating clinical history, functional contracture testing, and genetic data in the evaluation of MH susceptibility. While functional findings may support biological plausibility, definitive pathogenic classification of rare RYR1 variants requires additional segregation data or mechanistic studies.
Authors
- Katelyn S. Mistretta
- Péter Bedöcs (ORCID: https://orcid.org/0000-0002-4159-1391)
- Erin Tracy (ORCID: https://orcid.org/0000-0001-6523-4156)
- Robert Vietor (ORCID: https://orcid.org/0000-0001-5726-5972)
- Alakesh Bera (ORCID: https://orcid.org/0000-0002-2690-8178)
Institutions
- Uniformed Services University of the Health Sciences (US)
Publication Details
- Journal
- Genes
- Published
- 2025-12-24
- DOI
- https://doi.org/10.3390/genes17010013
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.00