Based on his genetic assessment results, some genomic variants had been discovered including the disrupted COG6 gene variant (c.1584+5dup), as well as several single neucleotide polymorphisms on the genes of MFN2 (842G > C), PKLR (1456C > G), PAH (c289C > T), SEPSECS (C.478G > A), MCCC2 (c.1236C > T), PLOD1 (c.1991C > T), MMUT (c.424G > A), and ETFDH (c.524G > A) confirming the definitive diagnosis of CMT. This evidence concerns the gene MFN2 and Charcot-Marie-Tooth disease.