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Charcot-Marie-Tooth (CMT) disease is one of the most common primary hereditary neuropathies causing peripheral neuropathies. More than 60 different gene mutations are causing this disease. The  PRX  gene codes for Periaxin proteins that are expressed by Schwann cells and are necessary for the formation and maintenance of myelination of peripheral nerves. Dejerine-Sottas neuropathy and Charcot-Marie-Tooth type 4F (CMT4F) are the two different clinical phenotypes observed in association with  PRX  gene mutation. This article describes a case of an elderly male with a novel mutation involving the  PRX  gene.

A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation