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Article

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.

The Journal of international medical research - 1 Dec 2022

Kozina Anastasiya Aleksandrovna, Baryshnikova Natalia Vladimirovna, Ilinskaya Anna Yurievna, Kim Anna Alexandrovna, Plotnikov Nikolay Alekseevich, Pogodina Nadezhda Andreevna, Surkova Ekaterina Ivanovna, Shatalov Peter Alekseevich, Ilinsky Valery Vladimirovich

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of peripheral neuropathies most of which are associated with mutations in four genes including peripheral myelin protein-22 (PMP22), myelin protein zero (MPZ), gap junction protein beta1 (GJB1) and mitofusin2 (MFN2). This current case report describes the clinical and genetic characteristics of a 6-year-old male proband. A physical examination...

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Identifiers

PMID: 36567457
DOI: 10.1177/03000605221139718
PMCID: PMC9806381

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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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