DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1

OBJECTIVE: ) DNA methylation (DNAme) epivariation on muscular and respiratory profiles in patients with myotonic dystrophy type 1 (DM1). METHODS: Phenotypes were assessed with standardized measures. Pyrosequencing of bisulfite-treated DNA was used to quantify DNAme levels in blood from 90 patients with DM1 (adult form). Modal CTG repeat length was assessed using small-pool PCR. The presence of Acil-sensitive variant repeats was also tested. RESULTS: = 0.012). CONCLUSIONS: epivariations independently explain phenotypic variability in DM1 and could thus improve prognostic accuracy for patients.