eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | muscular dystrophy |
| Comorbidity | C0020255|hydrocephalus |
| Sentences | 1 |
| PubMedID- 26452345 | The strongest indication that this mutation causes the phenotype in friesian horses is that the exact same nonsense mutation was found homozygously in a human muscular dystrophy patient with hydrocephalus by stevens et al. |
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