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Article

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

Journal of human genetics - 1 Mar 2018

Yuan Jun-Hui, Hashiguchi Akihiro, Okamoto Yuji, Yoshimura Akiko, Ando Masahiro, Shiomi Kazutaka, Saito Kayoko, Takahashi Makoto, Ichinose Keiko, Ohmichi Takuma, Ichikawa Kazushi, Tadashi Adachi, Takigawa Hiroshi, Shibayama Hidehiro, Takashima Hiroshi

Abstract excerpt

SH3TC2, known as the causative gene of autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C), was also found linked to a mild mononeuropathy of the median nerve with an autosomal dominant inheritance pattern. Using DNA microarray, Illumina MiSeq, and Ion proton, we carried out gene panel sequencing among 1483 Japanese CMT patients, containing 397 patients with demyelinating CMT. From seven...

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PMID: 29321516
DOI: 10.1038/s10038-017-0388-5

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