Research Article
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 |
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