eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hartnup disease |
| Comorbidity | C0026848|myopathy |
| Sentences | 1 |
| PubMedID- 24751540 | Human mutations of imm and omm fusion proteins (adoa and charcot-marie-tooth disease) are commonly associated with myopathy, manifesting muscle weakness (yu-wai-man et al., 2010; feely et al., 2011; vital and vital, 2012), and knockout of the omm fusion proteins in mouse sm is detrimental for the metabolic performance of the mitochondria (chen et al., 2005, 2010). |
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