Testing of dogs: Polyglucosan body myopathy

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Reference:

Blake, J.M., Miller, A.D., Marr, J.L., Ekenstedt, K.J. : Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy. Mol Genet Metab 146:S1096-7192(25)00223-9:109232, 2025. Pubmed reference: 40939526