Nov 18, 2024 · RYR1 -related diseases affect skeletal muscle and are caused by changes (variants) in the RYR1 gene 1. RYR1 variants are the most common cause of muscle weakness present from birth (congenital myopathy).

Currently, there is no other organization that exists solely to advocate for and serve the needs of patients and families affected by RYR-1-Related Diseases (RYR-1-RD). The goal of The RYR-1 Foundation is to fill this much-needed void.

Ryanodine receptor type 1-related myopathies (RYR1 -RM) are the most common class of congenital myopathies. Historically, RYR1 -RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy.

Ryanodine receptor 1 (RYR-1) also known as skeletal muscle calcium release channel or skeletal muscle-type ryanodine receptor is one of a class of ryanodine receptors and a protein found primarily in skeletal muscle. In humans, it is encoded by the RYR1 gene. [5][6]

The RYR1 gene provides instructions for making a protein called ryanodine receptor 1 (also called the RYR1 channel). Learn about this gene and related health conditions.

Mar 30, 2025 · RYR1 (Ryanodine Receptor 1) is a Protein Coding gene. Diseases associated with RYR1 include King-Denborough Syndrome and Congenital Myopathy 1A, Autosomal Dominant, With Malignant Hyperthermia. Among its related pathways are Activation of cAMP-Dependent PKA and Cardiac conduction.

Nov 7, 2018 · Ryanodine receptor type 1-related myopathies (RYR1 -RM) are the most common class of congenital myopathies. Historically, RYR1 -RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy.

RYR-1-Related Diseases (RYR-1-RD) are inherited forms of muscle disease resulting in a wide range of symptoms, including muscle weakness, a potentially fatal reaction to general anesthesia (malignant hyperthermia), and rhabdomyolysis.

Jul 12, 2024 · Purpose of review: RYR1-related myopathy (RYR1-RM) is a group of myopathies caused by mutations in the RYR1 gene, which encodes the ryanodine receptor 1 (RYR1). This review discusses recent advances in the clinical features, pathology, pathogenesis, and therapeutics of RYR1-RM.

Feb 8, 2025 · Gene target information for RYR1 - ryanodine receptor 1 (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.