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Article

Phenotypic variability of aprataxin gene mutations.

Neurology - 11 Mar 2003

Tranchant C, Fleury M, Moreira M C, Koenig M, Warter J M

Abstract excerpt

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...

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PMID: 12629250
DOI: 10.1212/01.wnl.0000048562.88536.a4

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