/hereditary myopathy with lactic acidosis due to ISCU deficiency
hereditary myopathy with lactic acidosis due to ISCU deficiency
Rare Disease
MONDO:0009706
Also Known As
ISCU myopathyaconitase deficiencyiron-sulfur cluster deficiency myopathymyopathy with exercise intolerance, Swedish typeHMLmyoglobinuria due to abnormal glycolysismyopathy with deficiency of succinate dehydrogenase and aconitasemyopathy with lactic acidosis, hereditary
Definition
Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
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