Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. [electronic resource]
- Neurology Aug 2002
- 590-5 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0028-3878
10.1212/wnl.59.4.590 doi
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