This suggested that there are at least two forms of PSSM. Genetic testing of hundreds of horses previously diagnosed with PSSM showed that not all horses diagnosed with PSSM have this genetic mutation. Terminology: In 2008, a mutation in the glycogen synthase 1 gene was found to be highly associated with one form of abnormal storage of polysaccharide in muscle. What is type 2 polysaccharide storage myopathy (PSSM)? How is a diagnosis of PSSM2 established?ġ.What is type 2 polysaccharide storage myopathy (PSSM)?.Neuromuscular Diseases related to vitamin E.Recommended Diagnostic Work-up for Atrophy.Recommended Diagnostic Work-up for Myopathies.Obtaining and submitting muscle sample for biopsy.Equine Neuromuscular Diagnostic Laboratory
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