Related Experiment Video
Updated: Feb 28, 2026
07:59
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
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The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study
Mira Ginsberg1, Marina Michelson1,2, Sharon Aharoni2,3
1Pediatric Neuromuscular Clinic, Pediatric Neurology Unit, Wolfson Medical Center, Holon 5822012, Israel.
Journal of Clinical Medicine
|February 27, 2026
Summary
Ryanodine receptor 1 (RYR1) gene variants cause diverse neuromuscular disorders. Variants in the Bsol domain correlate with increased disease severity, highlighting its importance in RYR1-related myopathies.
Area of Science:
- Genetics
- Neuromuscular Disorders
- Molecular Biology
Background:
- Ryanodine receptor 1 (RYR1) gene variants are associated with a spectrum of neuromuscular disorders.
- Phenotypes range from congenital myopathies to adult-onset conditions, with variable severity.
Purpose of the Study:
- To analyze the clinical, molecular, and histological features of RYR1 variants in an Israeli cohort.
- To investigate the correlation between RYR1 variant location and disease severity.
Main Methods:
- Retrospective review of 36 individuals with RYR1 variants from a national collaboration.
- Analysis of clinical data, genetic testing results, electromyography, and muscle histology.
- Classification of variants based on RYR1 gene domains.
Main Results:
- Nine individuals were asymptomatic; 27 presented with perinatal weakness, respiratory issues, or arthrogryposis.
- Histological findings were heterogeneous, including fiber-size variation and fibrosis.
- RYR1 variants in the Bsol domain showed a positive correlation with disease severity.
Conclusions:
- The Israeli cohort expands the known clinical and histological diversity of RYR1-related disorders.
- RYR1 variants in the Bsol domain are indicative of disease severity.
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