PedAM
Pediatric Disease Annotations & Medicines
| Disease | congenital myopathy |
| Phenotype | C0878544|cardiomyopathy |
| Sentences | 1 |
| PubMedID- 23826317 | In addition, some of the genes implicated in congenital myopathies belong to the largest genes of the human genome, as ttn (363 exons; mim#188840) mutated in congenital myopathy with fatal cardiomyopathy, neb (183 exons; mim#161650) mutated in nemaline myopathy, or ryr1 (106 exons; mim#180901) mutated in different pathologies. |
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