Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

Acta Neuropathol. 2013 Jun;125(6):917-9. doi: 10.1007/s00401-013-1113-x. Epub 2013 Apr 11.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Desmin / genetics
  • Desmin / metabolism*
  • Female
  • Humans
  • Intermediate Filaments / metabolism
  • Intermediate Filaments / pathology
  • Male
  • Mitochondria, Muscle / metabolism
  • Mitochondria, Muscle / pathology
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism

Substances

  • Desmin