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)
*Identified by sequencing.
MECP2
mutation*
143
58
26
Dosage assay results
Deletion
14
4
Normal
23
49
Fail/insufficient DNA
8
12