Respiratory Failure Associated With Mutations in the RYR1 Gene: A Case Report

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 multidisciplinary intervention—including ventilator support, tracheostomy, and targeted rehabilitation—can significantly improve functional outcomes in late‐onset cases.