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. 2014 Nov 27;86(8):873–878. doi: 10.1136/jnnp-2014-308826

Table 2.

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.