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...

Full description

Saved in:
Bibliographic Details
Published in:PLoS Genet
Main Authors: Störk, Theresa, Nessler, Jasmin, Anderegg, Linda, Hünerfauth, Enrice, Schmutz, Isabelle, Jagannathan, Vidhya, Kyöstilä, Kaisa, Lohi, Hannes, Baumgärtner, Wolfgang, Tipold, Andrea, Leeb, Tosso
Format: Artigo
Language:Inglês
Published: Public Library of Science 2019
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6795476/
https://ncbi.nlm.nih.gov/pubmed/31584937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008411
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items