Fig. 3

Distinct and overlapping features of the RYR1-RD spectrum. Individuals with RYR1-RD present with both myopathic and non-myopathic features. Histopathology can overlap among the different subtypes. Additionally, some phenotypes manifest following exposure to pharmacologic, physiologic, or environmental triggers. A classification system based on three distinct and overlapping categories (myopathic, non-myopathic, and triggered) accommodates current and most future subtypes of RYR1-RD