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).

RYR1 is associated with the dihydropyridine receptor (L-type calcium channels) within the sarcolemma of the T-tubule, which opens in response to depolarization, and thus effectively means that the RYR1 channel opens in response to depolarization of the cell. RYR1 plays a signaling role during embryonic skeletal myogenesis.

The RYR-1 Foundation Celebrates Breakthrough Results from Phase 1b Clinical Trial on RYR1-Related Myopathies

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.

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. Main histological subtypes ...

Variants or changes in the RYR1 gene are the most common cause of congenital muscle disease. The RyR1 receptor is a channel in muscle cells that regulate the flow of calcium, a critical component of muscle contraction.

Dec 25, 2024 · 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.

Nov 7, 2018 · 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 -RM.

The aim of the present study was to investigate the full spectrum of RYR1-related disorders throughout life and to use this knowledge to increase vigilance concerning malignant hyperthermia.

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.