Phenotypic variability of aprataxin gene mutations.

Abstract:

: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.

journal_name

Neurology

journal_title

Neurology

authors

Tranchant C,Fleury M,Moreira MC,Koenig M,Warter JM

doi

10.1212/01.wnl.0000048562.88536.a4

subject

Has Abstract

pub_date

2003-03-11 00:00:00

pages

868-70

issue

5

eissn

0028-3878

issn

1526-632X

journal_volume

60

pub_type

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