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Background  An E321G mutation in  MYH1  was recently identified in Quarter Horses (QH) with immune‐mediated myositis (IMM) defined by a phenotype of gross muscle atrophy and myofiber lymphocytic infiltrates.    Hypothesis/Objectives  We hypothesized that the  MYH1  mutation also was associated with a phenotype of nonexertional rhabdomyolysis. The objective of this study was to determine the prevalence of the  MYH1  mutation in QH with exertional (ER) and nonexertional (nonER) rhabdomyolysis.    Animals  Quarter Horses: 72 healthy controls, 85 ER‐no atrophy, 56 ER‐atrophy, 167 nonER horses selected regardless of muscle atrophy.    Methods  Clinical and histopathologic information and DNA was obtained from a database for (1) ER > 2 years of age, with or without atrophy and (2) nonER creatine kinase (CK) ≥ 5000 U/L, <5 years of age. Horses were genotyped for E321G  MYH1  by pyrosequencing.    Results  The  MYH1  mutation was present in a similar proportion of ER‐no atrophy (1/56; 2%) and in a higher proportion of ER‐atrophy (25/85; 29%) versus controls (4/72; 5%). The  MYH1  mutation was present in a significantly higher proportion of nonER (113/165; 68%) than controls either in the presence (39/42; 93%) or in absence (72/123; 59%) of gross atrophy. Lymphocytes were present in <18% of muscle samples with the  MYH1  mutation.    Conclusions and Clinical Importance  Although not associated with ER, the  MYH1  mutation is associated with atrophy after ER. The  MYH1  mutation is highly associated with nonER regardless of whether muscle atrophy or lymphocytic infiltrates are present. Genetic testing will enhance the ability to diagnose  MYH1  myopathies (MYHM) in QH.

An E321G MYH1 mutation is strongly associated with nonexertional rhabdomyolysis in Quarter Horses