eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Comorbidity | C0268238|chanarin-dorfman syndrome |
| Sentences | 1 |
| PubMedID- 20676808 | Among the disorders of lipid metabolism, mutations in the genes encoding two triglyceride lipases acting hand in hand cause severe generalized lipid storage myopathy, one associated with ichthyosis (chanarin-dorfman syndrome), the other dominated by juvenile-onset weakness. |
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