Respiratory Failure Associated With Mutations in the RYR1 Gene: A Case Report
ABSTRACT A novel RYR1 mutation (c.C5701T:p.Q1901X) was identified in a 51‐year‐old female presenting with acute respiratory failure as the primary manifestation of congenital myopathy. This case expands the genotype–phenotype spectrum of RYR1‐related myopathies and demonstrates that multidisciplinar...
Gardado en:
| Principais autores: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Wiley
2025-10-01
|
| Series: | Clinical Case Reports |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.1002/ccr3.70971 |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|