ISCU deficiency

Synonym(s)
- Hereditary myopathy with lactic acidosis, Swedish type myopathy with exercise intolerance
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ISCU / Iron-Sulfur Cluster Assembly Enzyme
  12q23.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
Disease group(s)
- 8.2 Disorders of lipoic acid and iron-sulfur metabolism