eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | escobar syndrome |
| Comorbidity | C0026848|myopathy |
| Sentences | 2 |
| PubMedID- 24039757 | In addition, escobar syndrome with nemaline myopathy has been associated with a homozygous stop mutation in tpm2, resulting in the complete absence of β-tm [16]. |
| PubMedID- 22749895 | In addition, escobar syndrome with nemaline myopathy is a manifestation of homozygous truncating beta-tropomyosin mutation. |
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