Associated Papers
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.
Record CJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2026
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.
Løseth S et al.
Brain : a Journal of Neurology, 2023
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.
Ando M et al.
Annals of Clinical and Translational Neurology, 2022
Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.
Shi J et al.
Neuromuscular Disorders : Nmd, 2021
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
Park J et al.
Journal of Medical Genetics, 2020
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