Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.
Masahiro AndoYujiro HiguchiJunhui YuanAkiko YoshimuraTakaki TaniguchiJun TakeiMika TakeuchiYu HiramatsuFumitaka ShimizuMasaya KubotaAkari TakeshimaTakehiro UedaKishin KohUtako NagaokaTakashi TokashikiSetsu SawaiYusuke SakiyamaAkihiro HashiguchiRyota SatoTakashi KandaYuji OkamotoHiroshi TakashimaPublished in: Annals of clinical and translational neurology (2022)
Screening for the SLC12A6 gene should be considered in patients with CMT, particularly those with central nervous system lesions, such as cognitive impairment and epilepsy, regardless of the CMT subtype.