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Article

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

Molecular brain - 21 Jan 2021

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

Abstract excerpt

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, including WC. In this study, we investigated the genetic background of a large Dutch family with autosomal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33478561
DOI: 10.1186/s13041-021-00736-3
PMCID: PMC7819179

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