Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

被引：41

作者：

Jen, J

Coulin, CJ

Bosley, TM

Salih, MAM

Sabatti, C

Nelson, SF

Baloh, RW

机构：

[1] Univ Calif Los Angeles, Sch Med, Dept Neurol, Los Angeles, CA 90095 USA

[2] Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA

[3] Univ Calif Los Angeles, Sch Med, Dept Surg, Div Head & Neck Surg, Los Angeles, CA 90095 USA

[4] Univ Freiburg, Inst Anat, Freiburg, Germany

[5] King Khalid Eye Specialist Hosp, Riyadh, Saudi Arabia

[6] King Saud Univ, King Khalid Univ Hosp, Riyadh, Saudi Arabia

来源：

NEUROLOGY | 2002年 / 59卷 / 03期

关键词：

D O I：

10.1212/WNL.59.3.432

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Horizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46).

引用

页码：432 / 435

页数：4

共 11 条

[1] Localization of a gene for Duane retraction syndrome to chromosome 2q31 [J].