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Commercial Genetic Testing For Type 2 Polysaccharide Storage Myopathy And Myofibrillar Myopathy Does Not Correspond To A Histopathological Diagnosis, Stephanie J. Valberg, C. J. Finno, Marisa L. Henry, Melissa Schott, Deborah Velez-Irizarry, Sichong Peng, Erica C. Mckenzie, Jessica L. Petersen
Commercial Genetic Testing For Type 2 Polysaccharide Storage Myopathy And Myofibrillar Myopathy Does Not Correspond To A Histopathological Diagnosis, Stephanie J. Valberg, C. J. Finno, Marisa L. Henry, Melissa Schott, Deborah Velez-Irizarry, Sichong Peng, Erica C. Mckenzie, Jessica L. Petersen
Department of Animal Science: Faculty Publications
Background: Commercial genetic tests for type 2 polysaccharide storage myopathy (PSSM2) and myofibrillar myopathy (MFM) have not been validated by peer-review, and formal regulation of veterinary genetic testing is lacking.
Objectives: To compare genotype and allele frequencies of commercial test variants (P variants) in MYOT (P2; rs1138656462), FLNC (P3a; rs1139799323), FLNC (P3b; rs1142918816) and MYOZ3 (P4; rs1142544043) between Warmblood (WB) and Arabian (AR) horses diagnosed with PSSM2/MFM by muscle histopathology, and phenotyped breed-matched controls. To quantify variant frequency in public repositories of ancient and modern horse breeds.
Study design: Cross sectional using archived clinical material and publicly available data.
Methods: …