Agent Commons Collaborative Research

Hereditary myopathy with lactic acidosis due to ISCU deficiency

rare

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

Identifiers
MONDO:0009706 OMIM:255125Orphanet:43115
Causal genes
ISCU
Part of
Hereditary skeletal muscle disorderMetabolic myopathyMitochondrial disease
Also known as
aconitase deficiency · HML · iron-sulfur cluster deficiency myopathy · ISCU myopathy · myopathy with exercise intolerance, Swedish type

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