eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital myopathy |
| Comorbidity | C0751951|central core disease |
| Sentences | 1 |
| PubMedID- 23183335 | central core disease, one of the most common congenital myopathies in humans, has been linked to mutations in the ryr1 gene encoding the ca(2+) release channel of the sarcoplasmic reticulum (ryr1). |
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