Phenotypic variability in a dystonia family with mutations in the manganese transporter gene

Mov Disord. 2013 May;28(5):685-6. doi: 10.1002/mds.25390. Epub 2013 Apr 16.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Video-Audio Media

MeSH terms

  • Brain / pathology
  • Cation Transport Proteins / genetics*
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / pathology
  • Female
  • Humans
  • Manganese / metabolism*
  • Middle Aged
  • Mutation / genetics*
  • Phenotype
  • Zinc Transporter 8

Substances

  • Cation Transport Proteins
  • SLC30A8 protein, human
  • Zinc Transporter 8
  • Manganese