The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

被引：262

作者：

Cuesta, A

Pedrola, L

Sevilla, T

García-Planells, J

Chumillas, MJ

Mayordomo, F

LeGuern, E

Marín, I

Vílchez, JJ

Palau, F

机构：

[1] CSIC, Inst Biomed, Lab Genet & Mol Med, E-46010 Valencia, Spain

[2] Univ Valencia, Hosp La Fe, Dept Neurol, E-46100 Valencia, Spain

[3] Univ Valencia, Hosp La Fe, Dept Clin Neurophysiol, E-46100 Valencia, Spain

[4] Univ Valencia, Hosp La Fe, Dept Pathol, E-46100 Valencia, Spain

[5] Hop La Pitie Salpetriere, INSERM, U289, F-75651 Paris, France

[6] Hop La Pitie Salpetriere, Dept Genet Cytogenet & Foetopathol, F-75651 Paris, France

[7] Univ Valencia, Dept Genet, E-46100 Valencia, Spain

[8] Univ Valencia, Inst Cavanilles Biodivers & Biol Evolut, E-46100 Valencia, Spain

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/ng798

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.

引用

页码：22 / 25

页数：4

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