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Identifying the Genetic Basis of Type 2 Polysaccharide Storage Myopathy

Researchers previously determined that a genetic mutation causes type 1 polysaccharide storage myopathy (PSSM1) in horses, a discovery that led to a genetic diagnostic test. They also identified a second type of PSSM (PSSM2) that is not linked to the same genetic mutation. This study has two components: first, it investigates the genetic basis of PSSM2 in an effort to improve diagnostic testing, and second, it looks at the link between the PSSM1 mutation and tying-up, which the researchers hope will lead to improved therapeutic management options.

Dr. Raffaella Teixeira, University of Minnesota