Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Definition
Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Also known as aconitase deficiency, iron-sulfur cluster deficiency myopathy, ISCU myopathy, myopathy with exercise intolerance, Swedish type — per MONDO