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"Phenotypic variability of aprataxin gene mutations." |
Tranchant C, Fleury M, Moreira MC, Koenig M, Warter JM |
Published March 11, 2003 in Neurology volume 60 .
Pubmed ID: 12629250
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. |
This publication refers to following REPAIRtoire entries:
| Proteins |
Last modification of this entry: Oct. 6, 2010
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