Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

doi:10.1136/jnnp-2025-336643

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Article

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

Journal of neurology, neurosurgery, and psychiatry - 13 Mar 2026

Record Christopher J, Grider Tiffany, Rebelo Adriana P, Laurini Christian, Skorupinska Mariola, Danzi Matt C, Poh Roy, Tomaselli Pedro J, Frezatti Rodrigo S, Dominik Natalia, Grosz Bianca, Ellis Melina, Kumar Kishore R, Harms Matthew B, Weihl Conrad C, Marques Júnior Wilson, Claeys Kristl G, Blake Julian C, Holt James Kl, Weber Astrid, Jacobson Ryan, Dineen Richard T, Falzone Yuri M, Previtali Stefano C, Menezes Manoj P, Vucic Steve, Laura Matilde, Kennerson Marina L, Shy Michael E, Zuchner Stephan, Reilly Mary M

Abstract excerpt

BACKGROUND: Heterozygous variants in SLC12A6 have recently been shown to cause dominant Charcot-Marie-Tooth disease (CMT). We aim to characterise the phenotype of patients with previously reported and novel heterozygous variants in the gene and understand any genotype-phenotype correlation. METHODS: Patients were clinically and genetically assessed in sites from Europe, Australia, Brazil and the USA. All patients...

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Identifiers

PMID: 41500801
DOI: 10.1136/jnnp-2025-336643
PMCID: PMC13018852

Genes

SLC12A6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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