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Article

Clinical features of inherited neuropathy with BSCL2 mutations in Japan.

Journal of the peripheral nervous system : JPNS - 1 Jun 2020

Ishihara Satoshi, Okamoto Yuji, Tanabe Hajime, Yoshimura Akiko, Higuchi Yujiro, Yuan Jun-Hui, Hashiguchi Akihiro, Ishiura Hiroyuki, Mitsui Jun, Suwazono Shugo, Oya Yasushi, Sasaki Masayuki, Nakagawa Masanori, Tsuji Shoji, Ohya Yusuke, Takashima Hiroshi

Abstract excerpt

Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene have been reported with different clinical phenotypes including Silver syndrome (SS)/spastic paraplegia 17 (SPG17), distal hereditary motor neuropathy type V (dHMN-V), and Charcot-Marie-Tooth (CMT) disease type 2. We screened 407 Japanese patients who were clinically suspected of having CMT by exome sequencing and searched...

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PMID: 32108980
DOI: 10.1111/jns.12369

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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