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Table 1 Mutation detection rate in the NCS groups

From: Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

Reported result on NCS Disease causing mutation Total count
Found Not found
Demyelinating 27 66 93
(24) (47)
29,0% 71,0%
(33.8%) (66.2%)
Axonal 17 176 193
8,8% 91,2%
Mixed 12 29 41
29,3% 70,7%
Not specified 16 81 97
16,5% 83,5%
Normal 0 11 11
0% 100,0%
Total 72 363 435
16,6% 83,4%
  1. In 59 cases CMT1A had already been excluded at other laboratories. The results reported in brackets concern the demyelinating group excluding these cases. The NCS-normal group was analyzed with the CMT2 test panel.