Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report

Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report

Abstract Background Charcot-Marie-Tooth 1C (CMT1C) is a rare form of dominantly inherited CMT1 neuropathy caused by a mutated gene encoding lipopolysaccharide-induced tumour necrosis alpha factor (LITAF). Case presentation We report a 56-year-old patient with an atypical clinical phenotype of CMT1C,...

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Bibliographic Details
Main Authors: Monika Turčanová Koprušáková, Milan Grofik, Ema Kantorová, Petra Jungová, Ján Chandoga, Martin Kolisek, Peter Valkovič, Matej Škorvánek, Rafal Ploski, Egon Kurča, Štefan Sivák
Format: Article
Language:English
Published: BMC 2021-07-01
Series:BMC Neurology
Subjects:
Charcot-Marie-Tooth 1C
LITAF
Inflammatory neuropathy
Case report
Online Access:https://doi.org/10.1186/s12883-021-02316-3

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