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Genetic Background Modulates the Phenotype of a Mouse Model of DYT1 Dystonia
DYT1 dystonia is a debilitating neurological disease characterized by involuntary twisting movements. The disease is caused by an in-frame deletion (GAG, “ΔE”) mutation in the TOR1A gene that encodes the torsinA protein. Intriguingly, only 30% of mutation carriers exhibit motor symptoms despite the...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3290549/ https://www.ncbi.nlm.nih.gov/pubmed/22393392 http://dx.doi.org/10.1371/journal.pone.0032245 |