Fig. 2

A Sanger sequencing revealed that the c.3917G > C mutation in SCN4A was heterozygous in the proband. B The results of MLPA study in the proband. A heterozygous 1.5-Mb duplication in 17p11.2-p12, including the coding regions of the COX10, PMP22, and TEKT3 genes, was found. Data were analyzed by Coffalyser software. The cutoff value for duplication was > 1.2. C Sanger sequencing revealed that the c.3917G > C mutation in SCN4A was heterozygous in the proband’s father. D The results of MLPA study in the proband’s father. A heterozygous 1.5-Mb duplication in 17p11.2-p12, including the coding regions of the COX10, PMP22, and TEKT3 genes, was found. E The c.3917G > C mutation in SCN4A was not detected in the proband’s mother. F The results of MLPA study in the proband’s mother. No duplication in the coding regions of the COX10, PMP22, or TEKT3 genes was found. G The sural nerve biopsy of the proband was examined by light microscopy. Toluidine blue staining revealed severe loss of myelinated fibers and regenerating clusters of myelinated fibers, with frequent onion bulb formations