{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T21:28:24Z","timestamp":1791322104007,"version":"4.3.1"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,6,14]],"date-time":"2011-06-14T00:00:00Z","timestamp":1308009600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidermolysis bullosa associated with muscular dystrophy is a rare, autosomal recessive form of epidermolysis bullosa simplex caused by mutations in the plectin gene, <jats:italic>PLEC1<\/jats:italic>. We describe a phenotypically mild case due to compound heterozygous mutations in <jats:italic>PLEC1<\/jats:italic> (2677_2685del and the novel mutation Q1644X). Clinical features included mild skin blistering since birth, slowly progressive and late\u2010onset upper limb\u2013predominant weakness, facial weakness, ptosis, incomplete ophthalmoplegia, and paroxysmal atrial fibrillation. Muscle Nerve 44: 135\u2013141, 2011<\/jats:p>","DOI":"10.1002\/mus.22076","type":"journal-article","created":{"date-parts":[[2011,2,25]],"date-time":"2011-02-25T21:26:28Z","timestamp":1298669188000},"page":"135-141","source":"Crossref","is-referenced-by-count":17,"title":["Epidermolysis bullosa with late\u2010onset muscular dystrophy and plectin deficiency"],"prefix":"10.1002","volume":"44","author":[{"given":"Eppie M.","family":"Yiu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfred","family":"Klausegger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leigh 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