IN VITRO GENETIC DIAGNOSTIC OF INHERITED PERIPHERAL NEUROPATHIES (CHARCOT-MARIE-TOOTH DISEASE)

摘要

A method of identifying in vitro molecular causes of Charcot Marie Tooth disease, comprising the following steps: (i) providing a physiological sample comprising a genome of a subject, and (ii) implementing on said sample at least one of Process A and Process B, wherein - Process A is determining a number of copy number variation(s), with respect to a sample of a normal subject, on all the 23 genes of Group 1 in Table 1 and at least 20 genes selected from the 30 genes of Group 2 in Table 1; and - Process B is determining a number of point mutation(s), with respect to a sample of a normal subject, on all the 23 genes of Group 1 in Table 1 and at least 20 genes selected from the 30 genes of Group 2 in Table 1.