Hereditary myopathy with lactic acidosis due to ISCU deficiency
Synonyms: Aconitase deficiency | ISCU myopathy | Iron-sulfur cluster deficiency myopathy | Myopathy with exercise intolerance, Swedish type
A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Hereditary myopathy with lactic acidosis due to ISCU deficiency?
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