| Disease ID | Source | Name | Description |
| 600462 | OMIM | Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) | A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. The disease is caused by variants affecting the gene represented in this entry. |