Functional impairments, fatigue and quality of life in RYR1-related myopathies: a questionnaire study


Mutations in RYR1, the gene encoding the sarcoplasmic reticulum (SR) type 1 ryanodine receptor (RyR1), have emerged as the most common genetic cause of non-dystrophic neuromuscular disorders in recent years.[1] RYR1 mutations give rise to a wide variety of myopathies presenting throughout life [2], ranging from early-onset congenital myopathies (for review, Jungbluth et al. [3]) to episodic manifestations in adulthood such as exertional rhabdomyolysis (RM), malignant hyperthermia during anesthesia with susceptibility proven by an in vitro contracture test (MH) and periodic paralysis [4] in otherwise healthy individuals.


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