Research Article

Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments

Table 1

Analytical performances of Myotonic Dystrophy SB kit compared to different “homemade” assays.

Total *Myotonic Dystrophy SB kit“Homemade” assays
DM1+DM1DM1+DM1

DM1-positive ( )650650
DM1/DM2-negative ( )048048
DM1-negative/DM2-positive ( )013013

 *Sensitivity = >99%, specificity = >99%.