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GNE myopathy: From clinics and genetics to pathology and research strategies

Lookup NU author(s): Dr Oksana Pogoryelova, Jose Gonzalez Coraspe, Dr Nikoletta Nikolenko, Professor Hanns Lochmuller, Dr Andreas Roos

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© 2018 The Author(s). 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.

Publication metadata

Author(s): Pogoryelova O, Gonzalez Coraspe JA, Nikolenko N, Lochmuller H, Roos A

Publication type: Review

Publication status: Published

Journal: Orphanet Journal of Rare Diseases

Year: 2018

Volume: 13

Online publication date: 02/05/2018

Acceptance date: 09/04/2018

ISSN (electronic): 1750-1172

Publisher: BioMed Central Ltd.

URL: https://doi.org/10.1186/s13023-018-0802-x

DOI: 10.1186/s13023-018-0802-x

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