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^*

^*Corresponding author for this work

Institute of Neurogenetics

41 Citations (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.

Original language	English
Journal	Neurology
Volume	52
Issue number	3
Pages (from-to)	649-651
Number of pages	3
ISSN	0028-3878
Publication status	Published - 01.02.1999

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Cite this

@article{46e3b6ecc8fb433ba56166e087968f70,

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",

issn = "0028-3878",

publisher = "American Medical Association",

number = "3",

}

TY - JOUR

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

UN SDGs

Other files and links

Fingerprint

Cite this