Phenotypic variability of aprataxin gene mutations

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Phenotypic variability of aprataxin gene mutations

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Tranchant, Christine | Fleury, Marie-Céline | Moreira, Maria-Ceù | Koenig, Michel | Warter, Jean-Marie

Edité par CCSD ; American Academy of Neurology -

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.

Langue: en

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