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

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...

Full description

Bibliographic Details
Main Authors: Jasmin Nessler, Petra Hug, Paul J. J. Mandigers, Peter A. J. Leegwater, Vidhya Jagannathan, Anibh M. Das, Marco Rosati, Kaspar Matiasek, Adrian C. Sewell, Marion Kornberg, Marina Hoffmann, Petra Wolf, Andrea Fischer, Andrea Tipold, Tosso Leeb
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Genes
Subjects:
<i>Canis lupus familiaris</i>
whole genome sequencing
dog
mitochondrion
phosphoenolpyruvate-carboxykinase
inborn error of metabolism
Online Access:https://www.mdpi.com/2073-4425/11/7/774

Internet

https://www.mdpi.com/2073-4425/11/7/774

Similar Items