Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration

Mov Disord. 2014 Apr;29(4):574-5. doi: 10.1002/mds.25868. Epub 2014 Mar 7.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Carrier Proteins / genetics*
  • Dystonia / genetics*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Mutation
  • Nerve Degeneration / genetics*
  • Neurodegenerative Diseases / genetics*
  • Quadriplegia / genetics*

Substances

  • Carrier Proteins
  • WDR45 protein, human