What are the Clinical Implications of RYR1 Mutations?
Mutations in the RYR1 gene can lead to several muscle disorders. One of the most well-known conditions associated with RYR1 mutations is malignant hyperthermia, a life-threatening condition triggered by certain anesthetics and muscle relaxants. Another condition linked to RYR1 mutations is Central Core Disease, characterized by muscle weakness and structural abnormalities in muscle fibers.
