✦ LIBER ✦
Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene
✍ Scribed by Christoph Kamm; Joanne Leung; Soni Joseph; William B. Dobyns; Alison Brashear; Xandra O. Breakefield; Laurie J. Ozelius
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 865 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
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. © 2004 Movement Disorder Society