Identification of a SACS gene missense mutation in ARSACS. [electronic resource]
Producer: 20040304Description: 107-9 p. digitalISSN:- 1526-632X
- Adult
- Ataxia -- complications
- Cerebellum -- pathology
- DNA Mutational Analysis
- Dysarthria -- diagnosis
- Female
- Gait Disorders, Neurologic -- diagnosis
- Genes, Recessive
- Heat-Shock Proteins -- genetics
- Homozygote
- Humans
- Japan
- Magnetic Resonance Imaging
- Male
- Muscle Spasticity -- complications
- Mutation, Missense
- Nerve Fibers, Myelinated -- pathology
- Neural Conduction
- Neuropsychological Tests
- Retina -- pathology
- Siblings
- Sural Nerve -- pathology
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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