A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy

A juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation deteriorated within weeks and elective euthanasia was performed. P...

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Detalles Bibliográficos
Autores principales: Mandigers, P. J. J., Van Steenbeek, F. G., Bergmann, W., Vos-Loohuis, M., Leegwater, P. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519843/
https://www.ncbi.nlm.nih.gov/pubmed/33677640
http://dx.doi.org/10.1007/s00439-021-02271-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519843/
https://www.ncbi.nlm.nih.gov/pubmed/33677640
http://dx.doi.org/10.1007/s00439-021-02271-6

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