PedAM
Pediatric Disease Annotations & Medicines
| Disease | cardiomyopathy |
| Phenotype | C0027127|myotonia congenita |
| Sentences | 1 |
| PubMedID- PMC4434415 | Human hereditary diseases, such as hypertrophic cardiomyopathy, homocystinuria, myotonia congenital, retinitis pigmentosa, etc., can be caused by mutations in cbs domains of cystathionine-β-synthase, inosine 5′-monophosphate dehydrogenase, amp kinase, and chloride channels, respectively, which also affect multimerization and sorting of proteins, channel gating, and ligand binding (bateman 1997). |
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