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Fig. 5 | BMC Neurology

Fig. 5

From: A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy

Fig. 5

A hypothetical pathophysiology of extreme hypertrophic neuropathy because of PMP22 and SOX10 gene mutations. The patient with CMT1A (B) has an additional copy of the PMP22 gene. The PMP 22 proteins are overexpressed in the Schwan cell and myelin layers, compared to healthy controls (A). Aberrant interaction between the SOX10 and PMP22 genes may cause an additional overexpression of the PMP22 protein in the proband (C)

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