Central core myopathy: genes and variants
Central core myopathy is linked to 1 analyzed protein (RYR1). 8 DNA variants are known to cause it; 34 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Central core myopathy
RYR1: Ryanodine receptor 1
It releases calcium from the skeletal-muscle sarcoplasmic reticulum when Cav1.1 senses membrane depolarization, directly coupling excitation to contraction. Pathogenic variants cause malignant-hyperthermia susceptibility and a broad spectrum of congenital RYR1-related myopathies.
8 disease-causing and 34 uncertain variants in RYR1 are linked to Central core myopathy.
Known disease-causing variants in Central core myopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RYR1 R4893L | 4893 | Pore-forming | Disease-causing (★★) |
| RYR1 Q4203R | 4203 | Cytoplasmic | Disease-causing (★) |
| RYR1 G4935D | 4935 | Transmembrane | Disease-causing (★) |
| RYR1 A2428S | 2428 | 6 X approximate repeats | Disease-causing (★) |
| RYR1 C3304R | 3304 | Cytoplasmic | Disease-causing (★) |
| RYR1 G4743V | 4743 | Cytoplasmic | Disease-causing (★) |
| RYR1 T4920P | 4920 | Lumenal | Disease-causing (★) |
| RYR1 H4813R | 4813 | Transmembrane | Disease-causing |
Same protein, different disease
- RYR1-related myopathy is also caused by RYR1 variants; they fall mostly in different places as the Central core myopathy variants (3 disease-causing).
- Centronuclear myopathy is also caused by RYR1 variants; they fall mostly in different places as the Central core myopathy variants (3 disease-causing).
Diseases related to Central core myopathy
- Fetal akinesia deformation sequence, also linked to RYR1
- Myopathy, also linked to RYR1
- Centronuclear myopathy, also linked to RYR1
- King Denborough syndrome, also linked to RYR1
- RYR1-related myopathy, also linked to RYR1
- Arthrogryposis multiplex congenita, also linked to RYR1
- Congenital multicore myopathy with external ophthalmoplegia, also linked to RYR1
Frequently asked questions
Which genes are linked to Central core myopathy?
In CATVariant, Central core myopathy is linked to 1 analyzed protein: RYR1 (Ryanodine receptor 1).
How many genetic variants are linked to Central core myopathy?
60 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 34 are of uncertain significance or have conflicting reports.
Which uncertain variants in Central core myopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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