hereditary myopathy with lactic acidosis due to ISCU deficiency
Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
MONDO:0020123
metabolic myopathy
is_a
MONDO:0044970
mitochondrial disease
is_a
MONDO:0700223
hereditary skeletal muscle disorder
is_a
HML
related
ISCU myopathy
exact
aconitase deficiency
exact
iron-sulfur cluster deficiency myopathy
exact
myopathy with exercise intolerance, Swedish type
exact
myopathy with lactic acidosis, hereditary
related
SPAC227.13c