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
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