Congenital multicore myopathy with external ophthalmoplegia: genes and variants
Congenital multicore myopathy with external ophthalmoplegia is linked to 1 analyzed protein (RYR1). 2 DNA variants are known to cause it; 14 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 Congenital multicore myopathy with external ophthalmoplegia
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.
2 disease-causing and 14 uncertain variants in RYR1 are linked to Congenital multicore myopathy with external ophthalmoplegia.
Known disease-causing variants in Congenital multicore myopathy with external ophthalmoplegia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RYR1 R2508S | 2508 | 6 X approximate repeats | Disease-causing (★) |
| RYR1 N43T | 43 | Cytoplasmic | Disease-causing (★) |
Same protein, different disease
- Central core myopathy is also caused by RYR1 variants; they fall mostly in different places as the Congenital multicore myopathy with external ophthalmoplegia variants (8 disease-causing).
- King Denborough syndrome is also caused by RYR1 variants; they fall mostly in different places as the Congenital multicore myopathy with external ophthalmoplegia variants (4 disease-causing).
- RYR1-related myopathy is also caused by RYR1 variants; they fall mostly in different places as the Congenital multicore myopathy with external ophthalmoplegia variants (3 disease-causing).
- Centronuclear myopathy is also caused by RYR1 variants; they fall mostly in different places as the Congenital multicore myopathy with external ophthalmoplegia variants (3 disease-causing).
Diseases related to Congenital multicore myopathy with external ophthalmoplegia
- Central core myopathy, also linked to RYR1
- 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
Frequently asked questions
Which genes are linked to Congenital multicore myopathy with external ophthalmoplegia?
In CATVariant, Congenital multicore myopathy with external ophthalmoplegia is linked to 1 analyzed protein: RYR1 (Ryanodine receptor 1).
How many genetic variants are linked to Congenital multicore myopathy with external ophthalmoplegia?
43 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 14 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital multicore myopathy with external ophthalmoplegia 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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