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They can result from a dysfunction in acetylcholine (ACh) synthesis or recycling, in its packaging into synaptic vesicles, or its subsequent release into the synaptic cleft. Other proteins involved in presynaptic endplate development and maintenance can also be impaired.<\/jats:p>\n                  <jats:p>Presynaptic CMS usually presents during the prenatal or neonatal period, with a severe phenotype including congenital arthrogryposis, developmental delay, and apnoeic crisis. However, milder phenotypes with proximal muscle weakness and good response to treatment have been described. Finally, many presynaptic genes are expressed in the brain, justifying the presence of additional central nervous system symptoms.<\/jats:p>\n                  <jats:p>\n                    Several animal models have been developed to study CMS, providing the opportunity to identify disease mechanisms and test treatment options. In this review, we describe presynaptic CMS phenotypes with a focus on\n                    <jats:italic toggle=\"yes\">in vivo<\/jats:italic>\n                    models, to better understand CMS pathophysiology and define new causative genes.\n                  <\/jats:p>","DOI":"10.3233\/jnd-221646","type":"journal-article","created":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T12:29:09Z","timestamp":1684499349000},"page":"731-759","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":13,"title":["Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through\n                    <i>In vivo<\/i>\n                    Models"],"prefix":"10.1177","volume":"10","author":[{"given":"Alessia","family":"Pugliese","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute","place":["Canada"]},{"name":"University of Messina","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen H.","family":"Holland","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute","place":["Canada"]},{"name":"University of Ottawa","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo","family":"Rodolico","sequence":"additional","affiliation":[{"name":"University of Messina","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute","place":["Canada"]},{"name":"The Ottawa Hospital","place":["Canada"]},{"name":"University of Ottawa","place":["Canada"]},{"name":"Medical Center \u2013 University of Freiburg","place":["Germany"]},{"name":"Barcelona Institute of Science and Technology (BIST)","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally","family":"Spendiff","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2023,5,19]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70201-7"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.177816"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.08.003"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304788"},{"key":"e_1_3_3_6_2","unstructured":"AbichtA M\u00fcllerJS Lochm\u00fcllerH. 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