| Autor: |
Walker RH; Department of Neurology (Dr. Walker), Veterans Affairs Medical Center, Bronx., Brin MF, Sandu D, Good PF, Shashidharan P |
| Jazyk: |
angličtina |
| Zdroj: |
Neurology [Neurology] 2002 Jan 08; Vol. 58 (1), pp. 120-4. |
| DOI: |
10.1212/wnl.58.1.120 |
| Abstrakt: |
A mutation of the DYT1 gene, which codes for torsinA, has been identified as the cause of one form of autosomal dominantly inherited dystonia. TorsinA immunohistochemistry was used to examine a case of DYT1, and several cases of non-DYT1, dystonia. No evidence was found for alterations of immunoreactivity at the light microscopic level, specifically neither cytoplasmic aggregations nor colocalization of torsinA immunoreactivity with a marker for endoplasmic reticulum. These findings contrast with results of recent cell culture studies of torsinA. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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