Myasthenic syndromes due to defects in COL13A1 and in the N‐linked glycosylation pathway

Myasthenic syndromes due to defects in COL13A1 and in the N‐linked glycosylation pathway

The congenital myasthenic syndromes (CMS) are hereditary disorders of neuromuscular transmission. The number of cases recognized, at around 1:100,000 in the United Kingdom, is increasing with improved diagnosis. The advent of next‐generation sequencing has facilitated the discovery of many genes tha...

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Bibliographic Details
Main Authors:	Beeson, D, Cossins, J, Rodriguez Cruz, PM, Maxwell, S, Liu, W-W, Palace, J
Format:	Journal article
Language:	English
Published:	Wiley 2018

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