eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital myopathy |
| Comorbidity | C0029089|ophthalmoplegia |
| Sentences | 1 |
| PubMedID- 26247046 | In f045, the severe congenital myopathy with ophthalmoplegia strongly suggested pathogenic variants in ryr1, but no pathogenic variants in ryr1 were identified. |
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