{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:20:17Z","timestamp":1791901217375,"version":"4.3.4"},"reference-count":33,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T00:00:00Z","timestamp":1720051200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,7,20]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Congenital myasthenic syndromes (CMS) are a group of rare but often treatable inherited disorders of neuromuscular transmission characterized by fatigable skeletal muscle weakness. In this paper we present the largest phenotypic analysis to date of a cohort of patients carrying the pathogenic variant c.1327delG in the CHRNE gene, leading to CHRNE-CMS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>This study aims to identify the phenotypic variability in CMS associated with c.1327delG mutation in the CHRNE gene.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Disease specific symptoms were assessed using specific standardized tests for autoimmune myasthenia (Quantitative Myasthenia Gravis score) as well as patient-reported scales for symptom severity. Evaluated clinical manifestations included ocular symptoms (ophthalmoparesis and ptosis), bulbar weakness, axial muscle weakness, proximal and distal muscle weakness, and respiratory function. Patients were allocated into three groups according to clinical impression of disease severity: mild, moderate, and severe.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>We studied 91 Bulgarian Roma patients, carrying the same causative homozygous CHRNE c.1327delG mutation. Bulbar weakness was present in patients throughout all levels of severity of CHRNE-CMS in this study. However, difficulties in eating and swallowing are more prominent characteristics in the moderate and severe clinical phenotypes. Diplopia and ptosis resulting from fatigue of the extraocular muscles were permanent features regardless of disease severity or age. Levels of axial, proximal and distal muscle weakness were variable between disease groups. The statistical analysis showed significant differences between the patients in the three groups, emphasizing a possible variation in symptom manifestation in the evaluated patient population despite the disease originating from the same genetic mutation. Impairment of respiratory function was more prominent in severely affected patients, which might result from loss of compensatory muscle function in those individuals.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Results from our study indicate significant phenotypic heterogeneity leading to mild, moderate, or severe clinical manifestation in CHRNE-CMS, despite the genotypic homogeneity.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230235","type":"journal-article","created":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T10:50:52Z","timestamp":1720781452000},"page":"1011-1020","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit"],"prefix":"10.1177","volume":"11","author":[{"given":"Kristina","family":"Kastreva","sequence":"first","affiliation":[{"name":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital \u201cAlexandrovska\u201d, Sofia, Bulgaria"},{"name":"Medical University Sofia, Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teodora","family":"Chamova","sequence":"additional","affiliation":[{"name":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital \u201cAlexandrovska\u201d, Sofia, Bulgaria"},{"name":"Medical University Sofia, Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislava","family":"Blagoeva","sequence":"additional","affiliation":[{"name":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital \u201cAlexandrovska\u201d, Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stoyan","family":"Bichev","sequence":"additional","affiliation":[{"name":"National Genetics Laboratory, University Hospital of Obstetrics and Gynecology \u201cMaichin Dom\u201d"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violeta","family":"Mihaylova","sequence":"additional","affiliation":[{"name":"Neurocenter, Kantonal Hospital Lucerne, Lucerne, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Goettingen, Goettingen, Germany"},{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Thompson","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Cherninkova","sequence":"additional","affiliation":[{"name":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital \u201cAlexandrovska\u201d, Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velina","family":"Guergueltcheva","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital \u201cSofiaMed\u201d, Sofia, Bulgaria"},{"name":"Sofia University \u201cSt. Kliment Ohridski\u201d, Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochmuller","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"},{"name":"Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa, ON, Canada"},{"name":"Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada"},{"name":"Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany"},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG), Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivailo","family":"Tournev","sequence":"additional","affiliation":[{"name":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital \u201cAlexandrovska\u201d, Sofia, Bulgaria"},{"name":"Medical University Sofia, Sofia, Bulgaria"},{"name":"Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,7,4]]},"reference":[{"key":"ref001","volume-title":"2023 May 9 [updated 2021 Dec 23]. 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