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

Table 2

Distribution of [CTG] expansions in 65 DM1 patients.

Molecular diagnosis	Clinical phenotype	[CTG] repeats	Number of patients
Premutation		38–50	0
DM1	“Mild”	51–149	9
	“Classic”	E2a 150–450	42
		E2b 451–2000	12
	“Congenital”	>2000	2
		Total DM1 patients	65