Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

J Inherit Metab Dis. 2003;26(8):813-5. doi: 10.1023/


A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Electron Transport Complex I
  • Female
  • Genotype
  • Humans
  • Infant
  • Male
  • Mutation*
  • NADH Dehydrogenase
  • NADH, NADPH Oxidoreductases / genetics*


  • NADH, NADPH Oxidoreductases
  • NADH Dehydrogenase
  • Electron Transport Complex I
  • NDUFS4 protein, human