eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | mitochondrial myopathy and sideroblastic anemia |
| Comorbidity | C0002896|sideroblastic anemia |
| Sentences | 1 |
| PubMedID- 22102571 | It is a transcriptional coactivator in nuclear receptor signaling, modifying steroid receptor activator rna (sra) (37,38), and when mutated or missing, leads to the disorder mitochondrial myopathy and sideroblastic anemia with lactic acidemia (mlasa) (39–42). |
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