{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T04:48:45Z","timestamp":1782362925507,"version":"3.54.5"},"reference-count":95,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscles"],"abstract":"<jats:p>Congenital Myasthenic Syndrome represents a complex and heterogeneous group of inherited neuromuscular disorders, which result from variants in genes involved in different pathophysiological mechanisms related to the neuromuscular junction. LRP4 (Low-density lipoprotein receptor-related protein 4) represents one of the most important proteins involved in this complex signaling pathway, acting in a complex with agrin and Muscle Skeletal Receptor Tyrosine Kinase (MuSK) proteins. LRP4 became known to most neurologists due to the description of anti-LRP4 antibody-related Myasthenia Gravis. There are, however, different neurological and neuromuscular disorders that result from pathogenic variants in LRP4 gene, especially a rare and potentially treatable Congenital Myasthenic Syndrome. The authors performed a detailed narrative review, including descriptions of the main pathophysiological, clinical, and therapeutic aspects of LRP4-related Congenital Myasthenic Syndromes.<\/jats:p>","DOI":"10.3390\/muscles5030046","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T03:20:21Z","timestamp":1782357621000},"page":"46","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["LRP4-Related Congenital Myasthenic Syndrome: Clinical, Pathophysiological, and Therapeutic Aspects"],"prefix":"10.3390","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-5550-1797","authenticated-orcid":false,"given":"Felipe Yuji Koyama","family":"Azeka","sequence":"first","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, Brazil"},{"name":"Einstein Medical School, 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Luiz","family":"Calegaretti","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, Brazil"},{"name":"Einstein Medical School, Faculdade Israelita de Ci\u00eancias da Sa\u00fade Albert Einstein (FICSAE), S\u00e3o Paulo 05653-120, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mateus Medeiros","family":"Pinheiro","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, Brazil"},{"name":"Santa Casa de S\u00e3o Paulo School of Medical Sciences (FCMSCSP), S\u00e3o Paulo 01221-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0430-1719","authenticated-orcid":false,"given":"Marcos 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