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 Citations (Scopus)

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 1 2004
Externally publishedYes

Fingerprint

Glutamate Receptors
Genetic Recombination
Mutation
Genes
Dystonia 12

Keywords

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

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

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

Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. / Kamm, Christoph; Leung, Joanne; Joseph, Soni; Dobyns, William B.; Brashear, Alison; Breakefield, Xandra O.; Ozelius, Laurie J.

In: Movement Disorders, Vol. 19, No. 7, 01.07.2004, p. 845-847.

Research output: Contribution to journalArticle

Kamm, C, Leung, J, Joseph, S, Dobyns, WB, Brashear, A, Breakefield, XO & Ozelius, LJ 2004, 'Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene', Movement Disorders, vol. 19, no. 7, pp. 845-847. https://doi.org/10.1002/mds.20095
Kamm, Christoph ; Leung, Joanne ; Joseph, Soni ; Dobyns, William B. ; Brashear, Alison ; Breakefield, Xandra O. ; Ozelius, Laurie J. / Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. In: Movement Disorders. 2004 ; Vol. 19, No. 7. pp. 845-847.
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