Journal of neurology, neurosurgery, and psychiatry
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.
Christopher J Record, Tiffany Grider, Adriana P Rebelo, Christian Laurini, Mariola Skorupinska, Matt C Danzi, Roy Poh, Pedro J Tomaselli, Rodrigo S Frezatti, Natalia Dominik, Bianca Grosz, Melina Ellis, Kishore R Kumar, Matthew B Harms, Conrad C Weihl
Published: 202610.1136/jnnp-2025-336643
Abstract
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 under…
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