Mitochondrial Myopathy and Sideroblastic Anemia

Mitochondrial Myopathy and Sideroblastic Anemia [PUS1]: An oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Features include myopathy, lactic acidosis, and sideroblastic anemia with ringed sideroblasts.

Sephardic-Mizrahi Jewish Carrier Frequency: N/A