Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

Writer’s cramp (WC) is a task-specific focal dystonia that occurs selectively in the hand and arm during writing. Previous studies have shown a role for genetics in the pathology of task-specific focal dystonia. However, to date, no causal gene has been reported for task-specific focal dystonia, inc...

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Detalles Bibliográficos
Autores principales: Huang, Miaozhen, Nibbeling, Esther A. R., Lagrand, Tjerk J., Souza, Ivana A., Groen, Justus L., Gandini, Maria A., Zhang, Fang-Xiong, Koelman, Johannes H. T. M., Adir, Noam, Sinke, Richard J., Zamponi, Gerald W., Tijssen, Marina A. J., Verbeek, Dineke S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Micro Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819179/
https://www.ncbi.nlm.nih.gov/pubmed/33478561
http://dx.doi.org/10.1186/s13041-021-00736-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819179/
https://www.ncbi.nlm.nih.gov/pubmed/33478561
http://dx.doi.org/10.1186/s13041-021-00736-3

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