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Updated: Jan 19, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation
Sorabh Datta1, Saurabh Kataria1, Raghav Govindarajan1
1Neurology, University of Missouri, Columbia, USA.
Abstract:
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.
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