A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder.

Matthias Christen,Rodrigo Gutierrez-Quintana,Matthew Green,Kiterie M E Faller,Mark Lowrie,Clare Rusbridge, Kenny Bossens,Cathryn Mellersh,Louise Pettitt,Tiina Heinonen,Hannes Lohi,Vidhya Jagannathan,Tosso Leeb

Movement disorders : official journal of the Movement Disorder Society（2023）

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摘要

We report the association of a TNR variant with a paroxysmal dystonia-ataxia syndrome in Weimaraners. It might be relevant to include sequencing of this gene in diagnosing humans with unexplained paroxysmal movement disorders. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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canine,dystonia,episodic ataxia,extracellular brain matrix,neurogenetics,precision medicine

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