ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency

A 3-year-old, male neutered Cavalier King Charles Spaniel (CKCS) presented with complex focal seizures and prolonged lethargy. The aim of the study was to investigate the clinical signs, metabolic changes and underlying genetic defect. Blood and urine organic acid analysis revealed increased medium-...

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Bibliographic Details
Published in:Genes
Main Authors: Matthias Christen, Jos Bongers, Déborah Mathis, Vidhya Jagannathan, Rodrigo Gutierrez Quintana, Tosso Leeb
Format: Text
Language:English
Published: Multidisciplinary Digital Publishing Institute 2022
Subjects:
Canis lupus familiaris
dog
neurology
metabolism
fatty acid disorder
seizure
precision medicine
Cavalier
Canis lupus
Online Access:https://doi.org/10.3390/genes13101847

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