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

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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Neurol
Päätekijät: Turčanová Koprušáková, Monika, Grofik, Milan, Kantorová, Ema, Jungová, Petra, Chandoga, Ján, Kolisek, Martin, Valkovič, Peter, Škorvánek, Matej, Ploski, Rafal, Kurča, Egon, Sivák, Štefan
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2021
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC8314550/
https://ncbi.nlm.nih.gov/pubmed/34311727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-021-02316-3
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