Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

被引：280
作者：
Baxter, RV
Ben Othmane, K
Rochelle, JM
Stajich, JE
Hulette, C
Dew-Knight, S
Hentati, F
Ben Hamida, M
Bel, S
Stenger, JE
Gilbert, JR
Pericak-Vance, MA
Vance, JM
机构：
[1] Duke Univ, Med Ctr, Inst Genom Sci & Policy, Ctr Human Genet, Durham, NC 27710 USA
[2] Inst Natl Neurol, Tunis 1007, Tunisia
来源：
NATURE GENETICS | 2002年 / 30卷 / 01期
基金：
美国国家卫生研究院;
关键词：
D O I：
10.1038/ng796
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosoma[ recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families-two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.
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收藏
页码：21 / 22
页数：2
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