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

被引：278

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.

引用

页码：21 / 22

页数：2

共 9 条

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