Central Core Disease
Last Posted: Feb 14, 2023
- Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population.
Foo Claribel Tian Yu, et al. Scientific reports 2022 0 (1) 5429
- Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Jungbluth H, et al. Neurology 2005 0 (12) 1930-5
- Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.
Zhao Yan, et al. Muscle & nerve 2016 1
- Central core disease
From NCATS Genetic and Rare Diseases Information Center
- Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.
Sei Yoshitatsu, et al. Anesthesiology 2004 10 (4) 824-30
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 06, 2023
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