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Charcot-Marie-Tooth type 4 C misdiagnosed as CIDP: electrodiagnostic pitfalls and genetic confirmation.

Neurogenetics - 30 Jun 2026

Okhovat Ali Asghar, Shahriyari Hamed, Ghasemi Aida, Dirandeh Elham, Karimi Narges, Ziaadini Bentolhoda, Panahi Akram, Kahrizi Kimia, Najmabadi Hossein, Nafissi Shahriar, Fatehi Farzad

Abstract excerpt

BACKGROUND AND OBJECTIVE: Charcot-Marie-Tooth disease type 4 C (CMT4C) is a hereditary neuropathy caused by recessive mutations in the SH3TC2 gene. Due to overlapping symptoms with acquired conditions like chronic inflammatory demyelinating polyneuropathy (CIDP), misdiagnosis is common. This study examines the clinical and electrophysiological profiles of five patients initially misdiagnosed with CIDP but later...

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PMID: 42377577
DOI: 10.1007/s10048-026-00917-z

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