Myotonic dystrophy type 1 muscular and respiratory profiles linked to DMPK DNA methylation levels


  • This study assessed the effects of dystrophia myotonica protein kinase (DMPK) DNA methylation (DNAme) epivariation on muscular and respiratory profiles in patients with myotonic dystrophy type 1 (DM1), and found that DMPK epivariations independently explained phenotypic variability in DM1.

Why this matters

  • Understanding of DMPK epivariations contributing to variability of muscular strengths and respiratory profiles in DM1 could improve the prognostic accuracy of patients.