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Updated: Aug 31, 2025

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
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A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report

Carmela V San Luis1, Coreen Schwartzlow1, Kenkichi Nozaki1

  • 1The University of Alabama at Birmingham, USA.

Journal of Investigative Medicine High Impact Case Reports
|August 22, 2022
PubMed
Summary

A novel Dynamin 2 mutation causes Charcot-Marie-Tooth neuropathy. This finding highlights the importance of genetic testing for inherited neuropathies and expands the known mutations linked to this condition.

Keywords:
Charcot-Marie-Tooth neuropathyDynamin 2case reportfamilial genetic studiespathogenic gene mutations

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