" /> Charcot-Marie-Tooth Disease Type 2E - CISMeF





Preferred Label : Charcot-Marie-Tooth Disease Type 2E;

NCIt synonyms : CMT2E;

NCIt definition : A form of Charcot-Marie-Tooth disease which is inherited in an autosomal dominant manner. It is caused by mutation(s) in the NEFL gene, encoding neurofilament light polypeptide. It results in peripheral axonal neuropathy.;

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31/07/2025


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