Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1-related rhabdomyolysis or myalgia.
Zhe LyuTuva Åsatun SolheimNanna Scharff PoulsenAnne-Sofie Vibæk EisumGry Hatting BehaFreja FornanderAnnarita Ghosh AndersenNanna WittingJohn VissingPublished in: Muscle & nerve (2024)
Most individuals with RYR1-related rhabdomyolysis/myalgia have close to normal strength, and normal fat fraction and contractility of muscles, and therefore constitute a mild phenotype of RYR1-related myopathies.