Results of MECP2 analysis in 337 female patients with RTT from the Cardiff study group
| Classic RTT (n = 1880) | Atypical RTT (n = 123) | Not classified (n = 26) | ||||
|---|---|---|---|---|---|---|
| *Identified by sequencing. | ||||||
| MECP2 mutation* | 143 | 58 | 26 | |||
| Dosage assay results | ||||||
| Deletion | 14 | 4 | ||||
| Normal | 23 | 49 | ||||
| Fail/insufficient DNA | 8 | 12 | ||||