Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of
congenital myopathies. Historically, RYR1-RM classification and diagnosis have been …

Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …

Background and purpose Patients with neuromuscular conditions are at increased risk of
suffering perioperative complications related to anaesthesia. There is currently little specific …

Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare
genetic disorders caused by mutations in genes encoding ion channel subunits in the …

RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel
(RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1 variations …

The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type
1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 …

Background Pathogenic variations in the gene encoding the skeletal muscle ryanodine
receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life …

Variants in the skeletal muscle ryanodine receptor 1 gene (RYR1) result in a spectrum of
RYR1-related disorders. Presentation during infancy is typical and ranges from delayed …

Ryanodine receptor type I-related myopathies (RYR1-RMs) are a common group of
childhood muscle diseases associated with severe disabilities and early mortality for which …

Skeletal muscle channelopathies are a group of rare episodic genetic disorders comprising
the periodic paralyses and the non-dystrophic myotonias. They may cause significant …