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Individual clinical findings and the clinical groups were compared between the group with a confirmed molecular diagnosis of CMS and the group without molecular diagnosis or with a non\u2010CMS molecular diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seventy\u2010nine patients (68 families) were included in the cohort: 48 in group A, 23 in group B and 8 in group C. Fifty\u2010one were considered confirmed CMS (30 <jats:italic>CHRNE<\/jats:italic>, 5 <jats:italic>RAPSN<\/jats:italic>, 4 <jats:italic>COL13A1<\/jats:italic>, 3 <jats:italic>DOK7<\/jats:italic>, 3 <jats:italic>COLQ<\/jats:italic>, 2 <jats:italic>GFPT1<\/jats:italic>, 1 <jats:italic>CHAT<\/jats:italic>, 1 <jats:italic>SCN4A<\/jats:italic>, 1 <jats:italic>GMPPB<\/jats:italic>, 1 <jats:italic>CHRNA1<\/jats:italic>), 7 probable CMS, 5 non\u2010CMS and 16 unsolved. The chance of a confirmed molecular diagnosis of CMS was significantly higher for group A and lower for group C. Some individual clinical features, alterations on biopsy and electrophysiology enhanced specificity for CMS. Muscle imaging showed at least mild alterations in the majority of confirmed cases, with preferential involvement of soleus, especially in <jats:italic>CHRNE<\/jats:italic> CMS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Stricter clinical criteria increase the chance of confirming a CMS diagnosis, but may lose sensitivity, especially for some specific genes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15173","type":"journal-article","created":{"date-parts":[[2021,11,8]],"date-time":"2021-11-08T17:39:58Z","timestamp":1636393198000},"page":"833-842","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6807-1951","authenticated-orcid":false,"given":"Eduardo P.","family":"Estephan","sequence":"first","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP) Sao Paulo Brazil"},{"name":"Department of Neurology Hospital Santa Marcelina Sao Paulo Brazil"},{"name":"Department of Medical Clinic Faculdade de Medicina Santa Marcelina (FASM) Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio A.","family":"Zambon","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP) Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Thompson","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran","family":"Polavarapu","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danny","family":"Jomaa","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute Ottawa ON Canada"},{"name":"Queen's University School of Medicine Kingston ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre Translational and Clinical Research Institute University of Newcastle Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo V. P.","family":"Helito","sequence":"additional","affiliation":[{"name":"Department of Radiology Hospital das Cl\u00ednicas (HCFMUSP) Instituto de Ortopedia (IOT) Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos O.","family":"Heise","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP) Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiane A. M.","family":"Moreno","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP) Sao Paulo Brazil"},{"name":"Department of Neurology Hospital Santa Marcelina Sao Paulo Brazil"},{"name":"Department of Medical Clinic Faculdade de Medicina Santa Marcelina (FASM) Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9 M. 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