R521C mutation in the FUS/TLS gene presenting as juvenile onset flail leg syndrome

Muscle Nerve. 2013 Dec;48(6):993-4. doi: 10.1002/mus.23956. Epub 2013 Oct 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Arginine / genetics*
  • Cysteine / genetics*
  • Humans
  • Leg / abnormalities
  • Leg / physiopathology
  • Lower Extremity Deformities, Congenital / complications
  • Lower Extremity Deformities, Congenital / genetics*
  • Male
  • Mutation / genetics*
  • Paraplegia / complications
  • Paraplegia / genetics*
  • RNA-Binding Protein FUS / genetics*

Substances

  • RNA-Binding Protein FUS
  • Arginine
  • Cysteine