A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11

被引：25

作者：

Reyniers, E

Van Bogaert, P

Peeters, N

Vits, L

Pauly, F

Fransen, E

Van Regemorter, N

Kooy, RF

机构：

[1] Univ Instelling Antwerp, Dept Med Genet, B-2610 Wilrijk, Belgium

[2] ULB, Hop Erasme, Brussels, Belgium

[3] Ctr Hosp Luxembourg, Luxembourg, Luxembourg

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 05期

关键词：

D O I：

10.1086/302638

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Choreoathetosis is a major clinical feature in only a small number of hereditary neurological disorders. We define a new X-linked syndrome with a unique clinical picture characterized by mild mental retardation, choreoathetosis, and abnormal behavior. We mapped the disease in a four-generation pedigree to chromosome Xp11 by linkage analysis and defined a candidate region containing a number of genes possibly involved in neuronal signaling, including a potassium channel gene and a neuronal G protein-coupled receptor.

引用

页码：1406 / 1412

页数：7

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