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Fig. 2 | Skeletal Muscle

Fig. 2

From: Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

Fig. 2

Overview of the RYR1 disease spectrum. At time of presentation, clinical severity can vary according to mode of inheritance (dominant, de novo, recessive), histopathologic features, and phenotypes ranging from severe neonatal onset to mild non-progressive muscle weakness. Recessive cases are typically more severe than dominant cases. The majority of histopathological features are associated with more severe clinical phenotypes, though this may not hold true for the core myopathies. Emerging clinical phenotypes associated with RYR1 variations also vary in severity

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