Phenotypic variability of aprataxin gene mutations

被引：54

作者：

Tranchant, C

Fleury, M

Moreira, MC

Koenig, M

Warter, JM

机构：

[1] Hop Univ, Serv Neurol, Neurol Clin, F-67091 Strasbourg, France

[2] INSERM, CNRS, Inst Genet & Biol Mol & Cellulaire, Strasbourg, France

来源：

NEUROLOGY | 2003年 / 60卷 / 05期

关键词：

D O I：

10.1212/01.WNL.0000048562.88536.A4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese founding haplotype. Patients 2 and 3 were French siblings and did not present with either OMA or hypoalbuminemia. They were compound heterozygous for the nonsense W279X mutation and a missense K197Q mutation.

引用

页码：868 / 870

页数：3

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