{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T00:11:24Z","timestamp":1754093484647,"version":"3.41.2"},"reference-count":41,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T00:00:00Z","timestamp":1750118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004844","name":"National Cheng Kung University Hospital","doi-asserted-by":"publisher","award":["20190282"],"award-info":[{"award-number":["20190282"]}],"id":[{"id":"10.13039\/501100004844","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Plectin (PLEC) is a versatile linker protein expressed in nearly all mammalian tissues, interlinking various components of the cytoskeleton and anchoring the hemidesmosome to the intermediate filament network of basal keratinocytes. Variants in <jats:italic>PLEC<\/jats:italic> disrupt its function as a linker protein, resulting in epidermolysis bullosa simplex (EBS), a hereditary skin disorder characterized by blister formation and mechanical fragility. Additionally, EBS patients with <jats:italic>PLEC<\/jats:italic> variants often exhibit varying degrees of muscular dystrophy. In this study, we detail the genotype, phenotype, transmission electron microscopy (TEM), and immunofluorescence microscopy (IFM) findings of nine Taiwanese EBS patients with <jats:italic>PLEC<\/jats:italic> variants. The patients had 13 pathogenic variants, including two missense variants and one inframe variant. Analyzing muscle involvement, TEM, and IFM findings, we determined that the presence of at least one missense or inframe pathogenic variant was correlated with milder muscular dystrophy or a later onset. Using AlphaFold, we modeled the 3D protein structures to elucidate the structural and functional implications of these pathogenic variants.<\/jats:p>","DOI":"10.1111\/1346-8138.17785","type":"journal-article","created":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T09:02:37Z","timestamp":1750150957000},"page":"1274-1284","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Missense and Inframe Pathogenic Variants in <scp><i>PLEC<\/i><\/scp> Lead to Minimal or Delayed\u2010Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype\u2013Phenotype Correlation in Nine Cases"],"prefix":"10.1111","volume":"52","author":[{"given":"Min\u2010Chia","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Dermatology National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University  Tainan Taiwan"},{"name":"Department of Family Medicine National Cheng 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