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Lookup NU author(s): Emily O'Connor, Dr Ana TopfORCiD, Dr Sally Spendiff, Daniel CoxORCiD, Dr Andreas Roos, Professor Hanns Lochmuller
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© 2018 The New York Academy of Sciences. Congenital myasthenic syndromes (CMS) are a group of rare disorders that cause fatigable muscle weakness due to defective signal transmission at the neuromuscular junction, a specialized synapse between peripheral motor neurons and their target muscle fibers. There are now over 30 causative genes that have been reported for CMS. Of these, there are 10 that are associated with a limb-girdle pattern of muscle weakness and are thus classed as LG-CMS. Next-generation sequencing and advanced methods of data sharing are likely to uncover further genes that are associated with similar clinical phenotypes, contributing to better diagnosis and effective treatment of LG-CMS patients. This review highlights clinical and pathological hallmarks of LG-CMS in relation to the underlying genetic defects and pathways. Tailored animal and cell models are essential to elucidate the exact function and pathomechanisms at the neuromuscular synapse that underlie LG-CMS. The integration of genomics and proteomics data derived from these models and patients reveals new and often unexpected insights that are relevant beyond the rare genetic disorder of LG-CMS and may extend to the functioning of mammalian synapses in health and disease more generally.
Author(s): O'Connor E, Topf A, Zahedi R, Spendiff S, Cox D, Roos A, Lochmuller H
Publication type: Article
Publication status: Published
Journal: Annals of the New York Academy of Sciences
Year: 2018
Volume: 1412
Issue: 15
Pages: 102-112
Print publication date: 01/01/2018
Online publication date: 05/01/2018
Acceptance date: 12/09/2017
ISSN (print): 0077-8923
ISSN (electronic): 1749-6632
Publisher: Wiley-Blackwell Publishing Inc.
URL: https://doi.org/10.1111/nyas.13520
DOI: 10.1111/nyas.13520
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