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

Table 1 Mutation detection rate in the NCS groups

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.

ISSN: 1471-2350