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Article

Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients.

Neuromuscular disorders : NMD - 1 Jan 2018

Milley György Máté, Varga Edina Timea, Grosz Zoltán, Nemes Csilla, Arányi Zsuzsanna, Boczán Judit, Diószeghy Péter, Molnár Mária Judit, Gál Anikó

Abstract excerpt

Charcot-Marie-Tooth neuropathy (CMT) is a genetically and clinically heterogeneous group of neuromuscular disorders with an overall prevalence of 1 per 2500. Here we report the first comprehensive genetic epidemiology study of Hungarian CMT patients. 409 CMT1 and 122 CMT2 patients were enrolled and genetic testing of PMP22, GJB1, MPZ, EGR2 and MFN2 genes were performed routinely. NDRG1 and CTDP1 genes were...

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Source

Identifiers

PMID: 29174527
DOI: 10.1016/j.nmd.2017.08.007

Genes

GJB1
MFN2
PMP22
CTDP1
EGR2
MPZ

Provenance

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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