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Article

Clinical diversity caused by novel IGHMBP2 variants.

Journal of human genetics - 1 Jun 2017

Yuan Jun-Hui, Hashiguchi Akihiro, Yoshimura Akiko, Yaguchi Hiroshi, Tsuzaki Koji, Ikeda Azusa, Wada-Isoe Kenji, Ando Masahiro, Nakamura Tomonori, Higuchi Yujiro, Hiramatsu Yu, Okamoto Yuji, Takashima Hiroshi

Abstract excerpt

Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot-Marie-Tooth disease (CMT) type 2S and spinal muscular atrophy with respiratory distress type 1 (SMARD1). From June 2014 to December 2015, we collected 408 cases, who referred to our genetic laboratory for genetic analysis, suspected with CMT disease or other inherited peripheral neuropathies (IPNs) on the basis of clinical...

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Source

Identifiers

PMID: 28202949
DOI: 10.1038/jhg.2017.15

Genes

IGHMBP2

Provenance

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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