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

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

Abstract 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 dyst...

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Bibliographic Details
Main Authors: Miaozhen Huang, Esther A. R. Nibbeling, Tjerk J. Lagrand, Ivana A. Souza, Justus L. Groen, Maria A. Gandini, Fang-Xiong Zhang, Johannes H. T. M. Koelman, Noam Adir, Richard J. Sinke, Gerald W. Zamponi, Marina A. J. Tijssen, Dineke S. Verbeek
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Molecular Brain
Subjects:
Writer’s cramp
Focal dystonia
CACNA1H
Rare variants
Structural and functional analysis
Online Access:https://doi.org/10.1186/s13041-021-00736-3

Internet

https://doi.org/10.1186/s13041-021-00736-3

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