Genetic analysis of three patients with an 18p- syndrome and dystonia

C. Klein; C. E. Page; P. LeWitt; M. F. Gordon; D. De Leon; Y. Awaad; X. O. Breakefield; M. F. Brin; Laurie J. Ozelius

Genetic analysis of three patients with an 18p- syndrome and dystonia

C. Klein, C. E. Page, P. LeWitt, M. F. Gordon, D. De Leon, Y. Awaad, X. O. Breakefield, M. F. Brin, Laurie J. Ozelius^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Neurogenetik

41 Zitate (Scopus)

Abstract

Some patients with an 18p- syndrome show dystonia, and a focal dystonia gene has been mapped to chromosome 18p. The authors evaluated the extent of the deletion in three patients with an 18p- syndrome and dystonia using 14 DNA markers on 18p. A common deleted area, covering the DYT7 locus, places the putative dystonia gene between the telomere of 18p and D18S1104 (49.6 cM). Dystonia in these patients may be caused by haploinsufficiency of the DYT7 gene, a new dystonia gene on 18p, or may result from developmental brain anomalies.

Originalsprache	Englisch
Zeitschrift	Neurology
Jahrgang	52
Ausgabenummer	3
Seiten (von - bis)	649-651
Seitenumfang	3
ISSN	0028-3878
Publikationsstatus	Veröffentlicht - 01.02.1999

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title = "Genetic analysis of three patients with an 18p- syndrome and dystonia",

abstract = "Some patients with an 18p- syndrome show dystonia, and a focal dystonia gene has been mapped to chromosome 18p. The authors evaluated the extent of the deletion in three patients with an 18p- syndrome and dystonia using 14 DNA markers on 18p. A common deleted area, covering the DYT7 locus, places the putative dystonia gene between the telomere of 18p and D18S1104 (49.6 cM). Dystonia in these patients may be caused by haploinsufficiency of the DYT7 gene, a new dystonia gene on 18p, or may result from developmental brain anomalies.",

author = "C. Klein and Page, \{C. E.\} and P. LeWitt and Gordon, \{M. F.\} and \{De Leon\}, D. and Y. Awaad and Breakefield, \{X. O.\} and Brin, \{M. F.\} and Ozelius, \{Laurie J.\}",

year = "1999",

month = feb,

day = "1",

language = "English",

volume = "52",

pages = "649--651",

journal = "Neurology",

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T1 - Genetic analysis of three patients with an 18p- syndrome and dystonia

AU - Klein, C.

AU - Page, C. E.

AU - LeWitt, P.

AU - Gordon, M. F.

AU - De Leon, D.

AU - Awaad, Y.

AU - Breakefield, X. O.

AU - Brin, M. F.

AU - Ozelius, Laurie J.

PY - 1999/2/1

Y1 - 1999/2/1

N2 - Some patients with an 18p- syndrome show dystonia, and a focal dystonia gene has been mapped to chromosome 18p. The authors evaluated the extent of the deletion in three patients with an 18p- syndrome and dystonia using 14 DNA markers on 18p. A common deleted area, covering the DYT7 locus, places the putative dystonia gene between the telomere of 18p and D18S1104 (49.6 cM). Dystonia in these patients may be caused by haploinsufficiency of the DYT7 gene, a new dystonia gene on 18p, or may result from developmental brain anomalies.

AB - Some patients with an 18p- syndrome show dystonia, and a focal dystonia gene has been mapped to chromosome 18p. The authors evaluated the extent of the deletion in three patients with an 18p- syndrome and dystonia using 14 DNA markers on 18p. A common deleted area, covering the DYT7 locus, places the putative dystonia gene between the telomere of 18p and D18S1104 (49.6 cM). Dystonia in these patients may be caused by haploinsufficiency of the DYT7 gene, a new dystonia gene on 18p, or may result from developmental brain anomalies.

UR - https://www.scopus.com/pages/publications/0033051829

M3 - Journal articles

C2 - 10025808

AN - SCOPUS:0033051829

SN - 0028-3878

VL - 52

SP - 649

EP - 651

JO - Neurology

JF - Neurology

IS - 3

ER -

Genetic analysis of three patients with an 18p- syndrome and dystonia

Abstract

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