2024年11月18日 · 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).

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.

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]

2024年12月25日 · RYR1 (Ryanodine Receptor 1) is a Protein Coding gene. Diseases associated with RYR1 include Malignant Hyperthermia 1 and King-Denborough Syndrome. Among its related pathways are Activation of cAMP-Dependent PKA and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calmodulin binding.

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.

2020年11月27日 · Ryanodine Receptor 1 Related Myopathies (RYR1-RM) are a group of congenital muscle diseases related and characterized by the involvement of a mutation in the ryanodine receptor calcium channel embedded in the membrane of …

2018年11月7日 · Here, we review histopathologic, clinical, imaging, and genetic diagnostic features of the main RYR1-RM subtypes. We also discuss the current state of treatments and focus on disease-modulating (nongenetic) therapeutic strategies under development for RYR1 …

In this narrative review, we provide historical highlights of RYR1 research, accounts of the main diagnostic disease subtypes and propose RYR1-related disorders (RYR1-RD) as a unified nomenclature to describe this complex and evolving disease spectrum.