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Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions
INTRODUCTION: Early onset isolated dystonia (DYT1) is linked to a three base pair deletion (ΔGAG) mutation in the TOR1A gene. Clinical manifestation includes intermittent muscle contraction leading to twisting movements or abnormal postures. Neuropathological studies on DYT1 cases are limited, most...
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| Izdano u: | Acta Neuropathol Commun |
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| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2014
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4247124/ https://ncbi.nlm.nih.gov/pubmed/25403864 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-014-0159-x |
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