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
Neurologyjournal_title
Neurologyauthors
Tranchant C,Fleury M,Moreira MC,Koenig M,Warter JMdoi
10.1212/01.wnl.0000048562.88536.a4subject
Has Abstractpub_date
2003-03-11 00:00:00pages
868-70issue
5eissn
0028-3878issn
1526-632Xjournal_volume
60pub_type
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