Hereditary myopathy with lactic acidosis due to ISCU deficiency

MONDO:0009706

Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.

Also known as: ISCU myopathy, aconitase deficiency, iron-sulfur cluster deficiency myopathy, myopathy with exercise intolerance, Swedish type, HML, myoglobinuria due to abnormal glycolysis, myopathy with deficiency of succinate dehydrogenase and aconitase, myopathy with lactic acidosis, hereditary

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