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, 13 (1), 70

GNE Myopathy: From Clinics and Genetics to Pathology and Research Strategies


GNE Myopathy: From Clinics and Genetics to Pathology and Research Strategies

Oksana Pogoryelova et al. Orphanet J Rare Dis.


GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. Molecular research and animal modelling significantly moved forward understanding of GNE myopathy mechanisms and suggested therapeutic interventions to alleviate the symptoms. Multiple therapeutic attempts are being made to supplement sialic acid depleted in GNE myopathy muscle cells. Translational research field provided valuable knowledge through natural history studies, patient registries and clinical trial, which significantly contributed to bringing forward an era of GNE myopathy treatment. In this review, we are summarising current GNE myopathy, scientific trends and open questions, which would be of significant interest for a wide neuromuscular diseases community.

Keywords: DMRV; Distal myopathy; GNE myopathy; HIBM; Nonaka disease; QSM; Sialic acid.

Conflict of interest statement

Ethics approval and consent to participate

Not applicable.

Consent for publication

The authors have consent to use the image shown in Fig. 1.

Competing interests

The authors declare that they do not have any competing interests.

OP and HL have served as investigators on clinical trials and and a Disease Monitoring Programme for GNE myopathy carried out by Newcastle University and the Newcastle NHS Trust sponsored by Ultragenyx Pharmaceuticals (NCT01784679, NCT02377921, NCT02736188).

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Fig. 1
Fig. 1
Distal muscle weakness in a GNE myopathy patient
Fig. 2
Fig. 2
The bifunctional enzyme UDP-GlcNAc 2-epimerase/ ManNAc kinase (GNE/MNK), encoded by the GNE gene, catalyzes the first two committed, rate-limiting steps in the biosynthesis of N-acetylneuraminic acid (sialic acid)

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