The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is
fundamental to the process of excitation–contraction coupling and skeletal muscle calcium …

Abstract Ryanodine receptors (RyRs)/Ca2+ release channels, on the endoplasmic and
sarcoplasmic reticulum of most cell types, are required for intracellular Ca2+ release …

The diamide insecticide class is one of the top-selling insecticides globally. They are used to
control a wide range of pests by targeting their ryanodine receptors (RyRs). Here, we report …

The sarcoplasmic reticulum (SR) provides feedback control required to balance the
processes of calcium storage, release, and reuptake in skeletal muscle. This balance is …

Background and purpose Although several recent studies have implicated RYR 1 mutations
as a common cause of various myopathies and the malignant hyperthermia susceptibility …

Malignant hyperthermia (MH) is a pharmacogenetic clinical syndrome that manifests as a
hypermetabolic crisis when a susceptible individual is exposed to an anesthetic triggering …

Abstract Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital
myopathies associated with both dominant and recessive inheritance. Histopathological …

Abstract Ryanodine receptor 1 (RYR1) gene mutations are associated with central core
disease (CCD), multiminicore disease (MmD) and malignant hyperthermia (MH), and have …

The congenital myopathies are a group of inherited neuromuscular disorders mainly defined
on the basis of characteristic histopathological features. We analysed 66 patients assessed …

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central
cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is …