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Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)

Four female Shetland Sheepdogs with hypertonic paroxysmal dyskinesia, mainly triggered by exercise and stress, were investigated in a retrospective multi-center investigation aiming to characterize the clinical phenotype and its underlying molecular etiology. Three dogs were closely related and thei...

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Detalles Bibliográficos
Autores principales: Nessler, Jasmin, Hug, Petra, Mandigers, Paul J. J., Leegwater, Peter A. J., Jagannathan, Vidhya, Das, Anibh M., Rosati, Marco, Matiasek, Kaspar, Sewell, Adrian C., Kornberg, Marion, Hoffmann, Marina, Wolf, Petra, Fischer, Andrea, Tipold, Andrea, Leeb, Tosso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397061/
https://www.ncbi.nlm.nih.gov/pubmed/32660061
http://dx.doi.org/10.3390/genes11070774