{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T02:12:03Z","timestamp":1781662323660,"version":"3.54.5"},"reference-count":47,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T00:00:00Z","timestamp":1573430400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>X-linked Emery\u2013Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern. The XCI pattern was determined on the lymphocytes of 30 symptomatic and asymptomatic EDMD1 female carriers\u201425 familial and 5 sporadic cases\u2014seeking genetic advice using the androgen receptor (AR) methylation-based assay. Carriers were subdivided according to whether they were above or below 50 years of age. A variance analysis was performed to compare the XCI pattern between symptomatic and asymptomatic carriers. The results show that 20% of EDMD1 carriers had cardiac symptoms, and that 50% of these were \u226550 years of age. The XCI pattern was similar in both symptomatic and asymptomatic carriers. Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue.<\/jats:p>","DOI":"10.3390\/genes10110919","type":"journal-article","created":{"date-parts":[[2019,11,12]],"date-time":"2019-11-12T04:07:07Z","timestamp":1573531627000},"page":"919","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["X-Linked Emery\u2013Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers"],"prefix":"10.3390","volume":"10","author":[{"given":"Emanuela","family":"Viggiano","sequence":"first","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Madej-Pilarczyk","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, 00-901 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3245-9169","authenticated-orcid":false,"given":"Nicola","family":"Carboni","sequence":"additional","affiliation":[{"name":"Neurology Department, Hospital San Francesco of Nuoro, 08100 Nuoro, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Picillo","sequence":"additional","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Ergoli","sequence":"additional","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"del Gaudio","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of Campania, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Marchel","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerardo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Chair of Cardiology, University of Campania-Monaldi Hospital, 80131 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Palladino","sequence":"additional","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Politano","sequence":"additional","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,11,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/ng1294-323","article-title":"Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy","volume":"8","author":"Bione","year":"1994","journal-title":"Nat. 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