eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital myasthenic syndrome |
| Comorbidity | C0014527|epidermolysis bullosa |
| Sentences | 1 |
| PubMedID- 21175599 | congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in plec1 and chrne. |
Page: 1