TSEN54 missense variant in Standard Schnauzers with leukodystrophy.

TSEN54 missense variant in Standard Schnauzers with leukodystrophy.

We report a hereditary leukodystrophy in Standard Schnauzer puppies. Clinical signs occurred shortly after birth or started at an age of under 4 weeks and included apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilt, circling, proprioceptive deficits, seizures and ventral...

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Main Authors: Theresa Störk, Jasmin Nessler, Linda Anderegg, Enrice Hünerfauth, Isabelle Schmutz, Vidhya Jagannathan, Kaisa Kyöstilä, Hannes Lohi, Wolfgang Baumgärtner, Andrea Tipold, Tosso Leeb
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-10-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008411

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https://doi.org/10.1371/journal.pgen.1008411

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