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Updated: Feb 3, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Fontan Failure Secondary to Charcot-Marie-Tooth-Induced Phrenic Neuropathy
Abstract:
Charcot-Marie-Tooth disease comprises a vast array of defects in myelin integrity that causes progressive peripheral sensorimotor neuropathy. It is the most prevalent inherited peripheral neuropathy, and it can affect the management of coexisting medical conditions. We report the case of a 25-year-old woman who had undergone successful Fontan surgery during childhood, but her Fontan circulation failed as a result of diaphragmatic paresis caused by Charcot-Marie-Tooth disease type 1A. This diagnosis precluded cardiac transplantation.
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