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Hereditary myopathy with lactic acidosis due to ISCU deficiency
What is Hereditary myopathy with lactic acidosis due to ISCU deficiency?
A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Other condition names
Aconitase deficiency
ISCU myopathy
Iron-sulfur cluster deficiency myopathy
Myopathy with exercise intolerance, Swedish type
Inheritance type
Autosomal recessive
Prevalence
Worldwide: <1 in 1,000 000
Age of Onset
Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on
"https://www.orphadata.com"
. Data version 1.3.16 / 4.1.7.