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Genotype–phenotype interactions in primary dystonias revealed by differential changes in brain structure

Our understanding of how genotype determines phenotype in primary dystonia is limited. Familial young-onset primary dystonia is commonly due to the DYT1 gene mutation. A critical question, given the 30% penetrance of clinical symptoms in DYT1 mutation carriers, is why the same genotype leads to diff...

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Detalles Bibliográficos
Autores principales: Draganski, B., Schneider, S.A., Fiorio, M., Klöppel, S., Gambarin, M., Tinazzi, M., Ashburner, J., Bhatia, K.P., Frackowiak, R.S.J.
Formato: Texto
Lenguaje:English
Publicado: Academic Press 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2741581/
https://www.ncbi.nlm.nih.gov/pubmed/19344776
http://dx.doi.org/10.1016/j.neuroimage.2009.03.057