Disease ID | Source | Name | Description |
613561 | OMIM | Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2) | A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. The disease is caused by variants affecting the gene represented in this entry. |