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Article

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

BMC neurology - 27 Jul 2021

Turčanová Koprušáková Monika, Grofik Milan, Kantorová Ema, Jungová Petra, Chandoga Ján, Kolisek Martin, Valkovič Peter, Škorvánek Matej, Ploski Rafal, Kurča Egon, Sivák Štefan

Abstract excerpt

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, which started as progressive weakness of a single upper limb resembling acquired inflammatory neuropathy. Nerve conduction...

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Identifiers

PMID: 34311727
DOI: 10.1186/s12883-021-02316-3
PMCID: PMC8314550

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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