SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

N Engl J Med. 2016 Feb 25;374(8):795-7. doi: 10.1056/NEJMc1513610.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Exercise Tolerance / drug effects
  • Exercise Tolerance / genetics*
  • Female
  • Heterozygote
  • Humans
  • Membrane Transport Proteins / deficiency
  • Membrane Transport Proteins / genetics*
  • Mitochondrial Diseases / drug therapy
  • Mitochondrial Diseases / genetics*
  • Muscle, Skeletal / pathology*
  • Mutation
  • Riboflavin / therapeutic use*

Substances

  • Membrane Transport Proteins
  • SLC25A32 protein, human
  • Riboflavin