首页   按字顺浏览 期刊浏览 卷期浏览 Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additiona...
Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additional Support that Connexin32 Is the Defect in CMTX1

 

作者: Margaret A. Pericak-Vance,   David F. Barker,   JoAnn Bergoffen,   Phillip Chance,   Susan Cochrane,   Niklas Dahl,   Mareike-Christine Exler,   Pamela R. Fain,   Nicholas D. Fairweather,   Kenneth Fischbeck,   Andreas Gal,   Neva Haites,   R. Ionasescu,   Victor V. Ionasescu,   Marina L. Kennerson,   Anthony P. Monaco,   M. Mostaccuiolo,   Garth A. Nicholson,   Anna Sillén,   Jonathan L. Haines,  

 

期刊: Human Heredity  （Karger Available online 1995）
卷期: Volume 45, issue 3  

页码: 121-128

 

ISSN:0001-5652

 

年代: 1995

 

DOI:10.1159/000154272

 

出版商: S. Karger AG

 

关键词: Linkage;X-linked Charcot-Marie-Tooth disease;Connexin 32;X chromosome;Neuropathy

 

数据来源: Karger

 

摘要:

Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin 32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.

 

点击下载:  PDF (1463KB)



返 回