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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.

For detailed information about this disease visit : National Institutes of Health (NIH) >

Carrier Frequency by Ethnicity >