Article
A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2023
Christen Matthias, Gutierrez-Quintana Rodrigo, James Matthew, Faller Kiterie M E, Lowrie Mark, Rusbridge Clare, Bossens Kenny, Mellersh Cathryn, Pettitt Louise, Heinonen Tiina, Lohi Hannes, Jagannathan Vidhya, Leeb Tosso
Abstract excerpt
BACKGROUND: Some paroxysmal movement disorders remain without an identified genetic cause. OBJECTIVES: The aim was to identify the causal genetic variant for a paroxysmal dystonia-ataxia syndrome in Weimaraner dogs. METHODS: Clinical and diagnostic investigations were performed. Whole genome sequencing of one affected dog was used to identify private homozygous variants against 921 control genomes. RESULTS: Four...
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