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Article

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

European journal of neurology - 1 Jan 2025

Cakar Arman, Candayan Ayse, Bagırova Gulandam, Uyguner Zehra Oya, Ceylaner Serdar, Durmus Hacer, Battaloglu Esra, Parman Yesim

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy. In this study, we aimed to analyze the genetic spectrum and describe phenotypic features in a large cohort from Türkiye. METHODS: Demographic and clinical findings were recorded. Patients were initially screened for PMP22 duplication. Targeted sequencing or whole-exome sequencing was performed in duplication-negative patients....

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Source

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Identifiers

PMID: 39776111
DOI: 10.1111/ene.16572
PMCID: PMC11707620

Genes

GJB1
PMP22
GDAP1
HINT1
MFN2
MPZ

Provenance

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