Phenotypic variability of aprataxin gene mutations.


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.


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@article{Tranchant2003PhenotypicVO, title={Phenotypic variability of aprataxin gene mutations.}, author={Christine Tranchant and M C Fleury and M C Moreira and Michel Koenig and J. M. Warter}, journal={Neurology}, year={2003}, volume={60 5}, pages={868-70} }