A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses.

Abstract

Glycogen storage diseases or glycogenoses are inherited diseases caused by abnormalities of enzymes that regulate the synthesis or degradation of glycogen. Deleterious mutations in many genes of the glyco(geno)lytic or the glycogenesis pathways can potentially cause a glycogenosis, and currently mutations in fourteen different genes are known to cause… (More)
DOI: 10.1111/j.1365-2052.2008.01778.x

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