Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.

doi:10.1111/ene.70313

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Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.

European journal of neurology - 1 Aug 2025

Jaubert Pauline, Loret Camille, Stojkovic Tanya, Attarian Shahram, Bonello-Palot Nathalie, Bouhour Françoise, Camdessanche Jean-Philippe, Cassereau Julien, Chanson Jean-Baptiste, Cintas Pascal, Creange Alain, Esselin Florence, Genestet Steeve, Giordano Sophie, Gitiaux Cyril, Guillaud-Bataille Marine, Isapof Arnaud, Kumaran Deiva, Labeyrie Céline, Laugel Vincent, Leonard-Louis Sarah, Lozeron Pierre, Magy Laurent, Mercier Sandra, Merle Philippe, Michaud Maud, Nicolas Guillaume, Ollagnon Elisabeth, Pereon Yann, Puma Angela, Poinsignon Vianney, Roy Susana Quijano, Sole Guilhem, Tard Céline, Vidoni Léo, Lia Anne-Sophie, Echaniz-Laguna Andoni

Abstract excerpt

BACKGROUND: Autosomal recessive mutations in the SH3TC2 gene cause Charcot-Marie-Tooth type 4C (CMT4C) demyelinating peripheral neuropathy. METHODS: In this nationwide observational retrospective study involving 27 French University Hospitals, we analyzed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with homozygous and compound heterozygous SH3TC2 gene mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child

Charcot-Marie-Tooth Disease

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Child, Preschool

Retrospective Studies

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Aged, 80 and over

Mutation

France

Genotype

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PMID: 40745932
DOI: 10.1111/ene.70313
PMCID: PMC12313827

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