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.

Source: Neuromuscular Disorders - November 8, 2018 Category: Neurology Authors: E. van Ruitenbeek, J.A.E. Custers, C. Verhaak, M. Snoeck, C. Erasmus, E.J. Kamsteeg, M.I. Schouten, C. Coleman, S. Treves, B.G. Van Engelen, H. Jungbluth, N.C. Voermans Source Type: research