Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene

Christoph Kamm, Joanne Leung, Soni Joseph, William B. Dobyns, Alison Brashear, Xandra O. Breakefield, Laurie J. Ozelius

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

By examining two previously described families with rapid onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.

Original languageEnglish (US)
Pages (from-to)845-847
Number of pages3
JournalMovement Disorders
Volume19
Issue number7
DOIs
StatePublished - Jul 2004
Externally publishedYes

Keywords

  • DYT12
  • Kainate receptor
  • Rapid-onset dystonia-parkinsonism

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    Kamm, C., Leung, J., Joseph, S., Dobyns, W. B., Brashear, A., Breakefield, X. O., & Ozelius, L. J. (2004). Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. Movement Disorders, 19(7), 845-847. https://doi.org/10.1002/mds.20095