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Lookup NU author(s): Dr Oksana Pogoryelova, Jose Gonzalez Coraspe, Dr Nikoletta Nikolenko, Professor Hanns Lochmuller, Dr Andreas Roos
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 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.
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
