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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Wiley
2025-10-01
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| Σειρά: | Clinical Case Reports |
| Θέματα: | |
| Διαθέσιμο Online: | https://doi.org/10.1002/ccr3.70971 |
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