Table 1.
Brain | Group | Gender | Age | PMI | Source | MECP2 | |
---|---|---|---|---|---|---|---|
NM_004992.3 | |||||||
cDNA | Protein | ||||||
1038 | CTL | F | 24 | 7 | NBB | NA | NA |
1614 | CTL | F | 27 | 18 | NBB | NA | NA |
4724 | CTL | F | 16 | 15 | NBB | NA | NA |
4725 | CTL | F | 32 | 17 | NBB | NA | NA |
6355 | RTT | F | 16 | 28 | HBTRC | NR | NR |
7773 | RTT | F | 24 | 25 | HBTRC | c.473 C > T | p.Thr158Met |
7783 | RTT | F | 26 | 39 | HBTRC | Exon Del | |
B7992 | RTT | F | 31 | 30 | HBTRC | NR | NR |
Abbreviations: CTL, control; F, female; HBTRC, Harvard Brain Tissue Resource Center; NA, not applicable; NBB, NIH NeuroBioBank; NR, no mutation in MECP2 reported; PMI, postmortem interval in hours; RTT, Rett syndrome.