eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | familial hemophagocytic lymphohistiocytosis |
| Comorbidity | C0026848|myopathy |
| Sentences | 2 |
| PubMedID- 23975679 | Overall, our data show that loss of fhl1 function leads to myopathy in vivo and suggest that loss of function of fhl1 may be one of the mechanisms underlying muscle dystrophy in patients with fhl1 mutations. |
| PubMedID- 25274776 | In contrast to sp myopathy patients with the fhl1 w122s mutation, mutant mice did not manifest cytoplasmic inclusions (reducing bodies) in muscle. |
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