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Article

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.

Journal of cellular and molecular medicine - 1 Nov 2018

Wu Yuan, Yuan Lamei, Guo Yi, Lu Anjie, Zheng Wen, Xu Hongbo, Yang Yan, Hu Pengzhi, Gu Shaojuan, Wang Bingqi, Deng Hao

Abstract excerpt

GNE myopathy is a rare, recessively inherited, early adult-onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE). This study aimed to identify the disease-causing mutation in a three-generation Han-Chinese family with members who have been diagnosed with...

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Asian People
Biopsy
Distal Myopathies
Homozygote
Multienzyme Complexes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Mutation, Missense

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Open in PubMed Open full text

Identifiers

PMID: 30160005
DOI: 10.1111/jcmm.13827
PMCID: PMC6201217

Genes

GNE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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