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. 2005 Oct 14;43(5):451–456. doi: 10.1136/jmg.2005.033464

Table 1 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)
MECP2 mutation* 143 58 26
Dosage assay results
 Deletion 14 4
 Normal 23 49
 Fail/insufficient DNA 8 12

*Identified by sequencing.