Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.

Methods: We obtained myoblasts from 6 patients with DM1 and 6 controls. We measured cytosine-thymine-guanine (CTG) expansion and detected RNA foci and muscleblind like 1 (MBNL1) through 3D reconstruction. We studied dystrophia myotonica protein kinase (DMPK) expression and splicing alterations of MBNL1, insulin receptor, and sarcoplasmic reticulum Ca(2+)-ATPase 1.

Results: = -0.818 [-0.979 to 0.019]).

Conclusion: = -0.818 [-0.979 to 0.019]).