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

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

Movement Disorders · 2004 · 11 citations · 9 references

Concepts

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.

References

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