central core myopathy
Findings
No curated finding names central core myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.
Definition from the Mondo Disease Ontology (MONDO:0007294), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Central core regions in muscle fibersHPOHP:0030230
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 4 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 4 of 4 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 5 of 5 reported patients
- Muscle weaknessHPOHP:0001324
- 4 of 4 reported patients · Neonatal onset
Show the remaining 23
- Easy fatigabilityHPOHP:0003388
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- KyphoscoliosisHPOHP:0002751
- Frequent (30% to 79% of cases)
- Malignant hyperthermiaHPOHP:0002047
- Frequent (30% to 79% of cases)
- Mitral valve prolapseHPOHP:0001634
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RYR1HGNC:10483
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: central core myopathy
- Also called
- Central Core Disease