Article
Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation.
Journal of veterinary internal medicine - 21 Jan 2026
Leonardi Hugo, Minor Katie M, Fritz Julien, Friedenberg Steven G, Cullen Jonah N, Guo Ling T, Shelton G Diane
Abstract excerpt
BACKGROUND: Myopathies caused by genetic abnormalities are increasingly recognized in veterinary medicine. HYPOTHESIS/OBJECTIVES: Clinically and genetically characterize a novel creatine deficiency disorder (CDD) myopathy in a family of mixed breed dogs. ANIMALS: Three siblings from the same litter were evaluated and genetically tested, including 2 dogs that were clinically affected and one dog clinically normal....
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