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Phenotypic variability of aprataxin gene mutations
- Source :
- Scopus-Elsevier
- Publication Year :
- 2003
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2003.
-
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.
- Subjects :
- Adult
Male
Apraxias
media_common.quotation_subject
Nonsense mutation
Nonsense
Mutation, Missense
Biology
Gene mutation
Compound heterozygosity
Ocular Motility Disorders
Cerebellum
medicine
Humans
Missense mutation
Oculomotor apraxia
media_common
Aprataxin
Genetics
Nuclear Proteins
Peripheral Nervous System Diseases
Syndrome
medicine.disease
DNA-Binding Proteins
Phenotype
Codon, Nonsense
Mutation (genetic algorithm)
Ataxia
Female
Neurology (clinical)
Atrophy
Nervous System Diseases
Subjects
Details
- ISSN :
- 1526632X and 00283878
- Volume :
- 60
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....acdf986e68e944e8be8d11dfc3fc30f6