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Hereditary myopathy with lactic acidosis due to ISCU deficiency

Disease definition

Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.

ORPHA:43115

  • 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: -

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