Estimation of the allele frequency of type 1 Polysaccharide Storage Myopathy and Malignant Hyperthermia in Quarter Horses in Brazil

AbstractType 1 Polysaccharide Storage Myopathy (PSSM1) and Malignant Hyperthermia (MH) are autosomal dominant genetic diseases caused by a point mutation in equine GYS1 and RYR1, respectively. Although the prevalence of PSSM1 and MH have been described in other countries as causes of myopathy in horses, there are no studies evaluating the allele frequency of those mutations in Brazil.The aim of the present study was to determine the allele frequency of the mutated alleles causing susceptibility for PSSM1 and MH mutations in Quarter Horses (QHs) in Brazil.
Source: Journal of Equine Veterinary Science - Category: Veterinary Research Authors: Source Type: research