2024年11月18日 · “RYR1-related diseases” is an umbrella term which covers a range of RYR1-related subtypes that affect the neuromuscular system in humans. Historically, individuals with …

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 …

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 …

Ryanodine受体（RyR）是存在于 内质网 /肌浆网上（ER/SR）的一种钙释放通道。 它能迅速地将Ca2+从ER/SR中释放出来, 从而发挥一系列的 生理功能。 Ryanodine受体对保持胞内钙的平 …

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 …

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.

The RYR-1 Foundation is a non-profit, 501 (c) (3) public charity, which was started by members of the Goldberg Family, who have been affected by an RYR-1-related disease. Currently, there is …

2024年7月12日 · 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 …

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 …

The RyR1 receptor is a channel in muscle cells that regulate the flow of calcium, a critical component of muscle contraction. A reduced number and/or abnormal RyR1 channels lead to …