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

## TL;DR

A new RYR1 gene mutation was found in a woman with respiratory failure, showing how this genetic change can cause muscle disease and how treatment can help.

## Contribution

The paper reports a novel RYR1 mutation and highlights effective multidisciplinary treatment for late-onset RYR1-related myopathy.

## Key findings

- A novel RYR1 mutation (c.C5701T:p.Q1901X) was identified in a patient with acute respiratory failure.
- Multidisciplinary intervention improved functional outcomes in this late-onset RYR1-related myopathy case.

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