Article
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.
Annals of clinical and translational neurology - 1 Jul 2022
Ando Masahiro, Higuchi Yujiro, Yuan Junhui, Yoshimura Akiko, Taniguchi Takaki, Takei Jun, Takeuchi Mika, Hiramatsu Yu, Shimizu Fumitaka, Kubota Masaya, Takeshima Akari, Ueda Takehiro, Koh Kishin, Nagaoka Utako, Tokashiki Takashi, Sawai Setsu, Sakiyama Yusuke, Hashiguchi Akihiro, Sato Ryota, Kanda Takashi, Okamoto Yuji, Takashima Hiroshi
Abstract excerpt
BACKGROUND: Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early-onset peripheral neuropathy associated with SLC12A6 heterozygous variants were reported in 2016. Only five families and three variants have been reported to date, and the spectrum is unclear. Here, we aim to describe the clinical and mutation spectra of...
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