Hereditary myopathy with lactic acidosis due to ISCU deficiency

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Name:
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Description:
A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
ORPHAcode:
43115
Synonyms:
Aconitase deficiency
ISCU myopathy
Iron-sulfur cluster deficiency myopathy
Myopathy with exercise intolerance, Swedish type
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14