Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. [electronic resource]
Producer: 20020920Description: 590-5 p. digitalISSN:- 0028-3878
- Adult
- Age of Onset
- Apraxias -- diagnosis
- Brain -- diagnostic imaging
- Cerebellum -- pathology
- Chromosomes, Human, Pair 9 -- genetics
- Comorbidity
- DNA Mutational Analysis
- DNA-Binding Proteins -- genetics
- Disease Progression
- Female
- Hematologic Diseases -- diagnosis
- Humans
- Japan -- epidemiology
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mutation
- Nuclear Proteins -- genetics
- Oculomotor Muscles -- physiopathology
- Pedigree
- Serum Albumin -- deficiency
- Spinocerebellar Degenerations -- diagnosis
- Sural Nerve -- pathology
- Tomography, X-Ray Computed
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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