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Article

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.

Journal of human genetics - 1 Feb 2017

Zhu Wenhua, Mitsuhashi Satomi, Yonekawa Takahiro, Noguchi Satoru, Huei Josiah Chai Yui, Nalini Atchayaram, Preethish-Kumar Veeramani, Yamamoto Masayoshi, Murakata Kenji, Mori-Yoshimura Madoka, Kamada Sachiko, Yahikozawa Hiroyuki, Karasawa Masato, Kimura Seigo, Yamashita Fumitada, Nishino Ichizo

Abstract excerpt

GNE myopathy is an autosomal recessive distal myopathy caused by loss-of-function mutations in the GNE gene, which encodes UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE), a key enzyme in sialic-acid biosynthesis. By comprehensive screening of manifesting patients using a fine-mapped targeted next-generation sequencing (NGS), we identified copy number variations (CNVs) in 13 patients from 11 unrelated families. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27829678
DOI: 10.1038/jhg.2016.134

Genes

GNE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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