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It also binds MuSK and perlecan\/dystroglycan, 2 signaling platforms of the postsynaptic domain. Mutations in ColQ cause a congenital myasthenic syndrome (CMS) with AChE deficiency. Because the absence of AChE does not fully explain the complexity of the syndrome and there is no curative treatment for the disease, we explored additional potential targets of ColQ by conducting a large genetic screening of ColQ\u2010deficient mice, a model for CMS with AChE deficiency, and analyzed their NMJ and muscle phenotypes. We demonstrated that ColQ controls the development and the maturation of the postsynaptic domain by regulating synaptic gene expression. Notably, ColQ deficiency leads to an up\u2010regulation of the 5 subunits of the nicotinic acetylcholine receptor (AChR), leading to mixed mature and immature AChRs at the NMJ of adult mice. ColQ also regulates the expression of extracellular matrix (ECM) components. However, whereas the ECM mRNAs were down\u2010regulated\n                    <jats:italic>in vitro<\/jats:italic>\n                    , compensation seemed to occur\n                    <jats:italic>in vivo<\/jats:italic>\n                    to maintain normal levels of these mRNAs. Finally, ColQ deficiency leads to a general atrophic phenotype and hypoplasia that affect fast muscles. This study points to new specific hallmarks for this CMS.\u2014Sigoillot, S. M., Bourgeois, F., Karmouch, J., Molg\u00f3, J., Dobbertin, A., Chevalier, C., Houlgatte, R., L\u00e9ger, J., Legay, C. Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ\u2010deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency. FASEB J. 30, 2382\u20132399 (2016).\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.fasebj.org\">www.fasebj.org<\/jats:ext-link>\n                  <\/jats:p>","DOI":"10.1096\/fj.201500162","type":"journal-article","created":{"date-parts":[[2016,3,18]],"date-time":"2016-03-18T23:20:03Z","timestamp":1458343203000},"page":"2382-2399","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ\u2010deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency"],"prefix":"10.1096","volume":"30","author":[{"given":"S\u00e9verine M.","family":"Sigoillot","sequence":"first","affiliation":[{"name":"Centre de Neurophysique, Physiologie et Pathologie, Centre National de la Recherche Scientifique (CNRS), Unit\u00e9 Mixte de Recherche (UMR) 8119, Universit\u00e9 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