Orphanet: Hereditary myopathy with lactic acidosis due to ISCU deficiency

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Hereditary myopathy with lactic acidosis due to ISCU deficiency

Disease definition

A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.


Classification level: Disorder
  • Synonym(s):
    • Aconitase deficiency
    • ISCU myopathy
    • Iron-sulfur cluster deficiency myopathy
    • Myopathy with exercise intolerance, Swedish type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G71.3
  • OMIM: 255125
  • UMLS: C1850718
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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