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

doi:10.1002/mds.20095

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

JSMBS Office of the Dean

University at Buffalo

Research output: Contribution to journal › Article › peer-review

15 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 language	English
Pages (from-to)	845-847
Number of pages	3
Journal	Movement Disorders
Volume	19
Issue number	7
DOIs	https://doi.org/10.1002/mds.20095
State	Published - Jul 2004

Keywords

DYT12
Kainate receptor
Rapid-onset dystonia-parkinsonism

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10.1002/mds.20095

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

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.",

keywords = "DYT12, Kainate receptor, Rapid-onset dystonia-parkinsonism",

author = "Christoph Kamm and Joanne Leung and Soni Joseph and Dobyns, \{William B.\} and Alison Brashear and Breakefield, \{Xandra O.\} and Ozelius, \{Laurie J.\}",

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AU - Kamm, Christoph

AU - Leung, Joanne

AU - Joseph, Soni

AU - Dobyns, William B.

AU - Brashear, Alison

AU - Breakefield, Xandra O.

AU - Ozelius, Laurie J.

PY - 2004/7

Y1 - 2004/7

N2 - 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.

AB - 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.

KW - DYT12

KW - Kainate receptor

KW - Rapid-onset dystonia-parkinsonism

UR - https://www.scopus.com/pages/publications/3242721510

U2 - 10.1002/mds.20095

DO - 10.1002/mds.20095

M3 - Article

C2 - 15254951

SN - 0885-3185

VL - 19

SP - 845

EP - 847

JO - Movement Disorders

JF - Movement Disorders

IS - 7

ER -

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

Abstract

Keywords

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