A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

被引：0
|
作者：
ShoukhratM Ismailov
ValeriyP Fedotov
ElenaL Dadali
AlexanderV Polyakov
Christine Van Broeckhoven
VladimirI Ivanov
Peter De Jonghe
Vincent Timmerman
Oleg V Evgrafov
机构：
[1] Russian State Medical University,Division of Neurology
[2] Research Center for Medical Genetics,undefined
[3] Genetic Counselling Department of Diagnostic Center,undefined
[4] Laboratory of Molecular Genetics,undefined
[5] Flanders Interuniversity Institute for Biotechnology (VIB),undefined
[6] Born-Bunge Foundation (BBS),undefined
[7] University of Antwerpen (UIA),undefined
[8] University Hospital of Antwerpen (UZA),undefined
来源：
European Journal of Human Genetics | 2001年 / 9卷
关键词：
Charcot-Marie-Tooth neuropathy; genome-wide search; genetic linkage;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Charcot-Marie-Tooth disease (CMT) constitutes a genetically heterogeneous group of inherited motor and sensory peripheral neuropathies. The axonal type of CMT is designated CMT type 2 (CMT2). Four loci for autosomal dominant CMT2 have been reported so far. Only in CMT2E, linked to chromosome 8p21, disease-causing mutations in the gene for neurofilament light chain (NEFL) were identified. In this study we report a multigenerational Russian family with autosomal dominant CMT2 and assign the locus to chromosome 7q11-q21. The CMT2 neuropathy in this family represents a novel genetic entity designated CMT2F.
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页码：646 / 650
页数：4
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