eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | encephalopathy |
| Comorbidity | C0031117|peripheral neuropathy |
| Sentences | 2 |
| PubMedID- 25037205 | Conclusions: we show that in addition to early-onset cardiomyopathy, tsfm mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, ataxia, or leigh disease. |
| PubMedID- 23317799 | Although systemic features and the peripheral neuropathy improved with chelation, the encephalopathy showed only marginal change, with later appearance of a symmetric akinetic-rigid state. |
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