A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations

J Am Acad Dermatol. 2013 Jul;69(1):e29-32. doi: 10.1016/j.jaad.2013.01.015.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Heterozygote
  • Humans
  • Lipodystrophy / genetics
  • Male
  • Muscular Atrophy / genetics
  • Mutation, Missense*
  • Proteasome Endopeptidase Complex / genetics*
  • Skin / pathology
  • Syndrome
  • Young Adult

Substances

  • LMP7 protein
  • Proteasome Endopeptidase Complex