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Central core disease
1 OMIM reference -
1 associated gene
19 connected diseases
4 signs/symptoms
Disease Type of connection
Malignant hyperthermia
Autosomal dominant centronuclear myopathy
Benign Samaritan congenital myopathy
Congenital multicore myopathy with external ophthalmoplegia
King-Denborough syndrome
Moderate multiminicore disease with hand involvement
Catecholaminergic polymorphic ventricular tachycardia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Congenital atransferrinemia
Early-onset myopathy with fatal cardiomyopathy
Familial isolated dilated cardiomyopathy
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Hypokalemic periodic paralysis
Thyrotoxic periodic paralysis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RYR1 P21817180901
Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal dominant inheritance
- Hypotonia
- Myopathy