CMTNS for common mutations
| CMT subtype (mutation) | Mean CMTNS (n) | SD | Mean CMTNS adjusted for age and gender | Previous reports |
|---|---|---|---|---|
| CMT1A (PMP22 dup) | 13.7 (324) | 6.5 | 13.6 | 13.2–14.6 (Shy et al;4 Pareyson et al5) |
| CMT1X (GJB1) | 13 (53) | 6.8 | 15 | 11–16, 2nd–3rd decades (Shy et al;7 Siskind et al30) |
| CMT2A (MFN2) | 14.3 (42) | 8.7 | 12.6 | 21 (Feely et al8) |
| CMT1B (MPZ) | 13.7 (42) | 7.7 | 13.4 | |
| HNPP (PMP22) | 4.5 (12) | 2.1 |
The diseases and genes are named according to OMIM (http://www.ncbi.nlm.nih.gov/Omim/) and HUGO (http://www.genenames.org/), respectively.
CMT, Charcot-Marie-Tooth; CMTNS, CMT Neuropathy Score; dup, duplicate; HNPP, hereditary neuropathy with liability to pressure palsy.