{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T05:46:18Z","timestamp":1761630378871},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2005,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title\/>\n            <jats:p>We report a new clinical variant of epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) that was associated with cardiac involvement. A 33-year-old patient had atrial fibrillation, pericardial effusion, and hypokinetic left ventricular cardiac walls. The muscle biopsy material revealed diffuse endomysial fibrosis and small atrophic muscle fibers with rounded contours. A positive desmin expression with abnormal localization in the subsarcolemmal groups was observed. We concluded that patients with EBS-MD should be investigated carefully when there are associated cardiac findings.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/01.cnd.0000159779.32828.e7","type":"journal-article","created":{"date-parts":[[2005,5,18]],"date-time":"2005-05-18T08:00:53Z","timestamp":1116403253000},"page":"157-161","update-policy":"http:\/\/dx.doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":18,"title":["Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy and Cardiac Involvement"],"prefix":"10.1097","volume":"6","author":[{"given":"Canan","family":"Celik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilmi","family":"Uysal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aylin Okcu","family":"Heper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Belgin","family":"Karaoglan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-3-20240808","first-page":"195","article-title":"Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations.","volume":"78","author":"Dang","year":"1998","journal-title":"Lab Invest"},{"key":"R2-3-20240808","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1159\/000116993","article-title":"Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis.","volume":"33","author":"Doriguzzi","year":"1993","journal-title":"Eur 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