{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T12:46:15Z","timestamp":1762865175418},"reference-count":52,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,9,11]],"date-time":"2006-09-11T00:00:00Z","timestamp":1157932800000},"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":[[2007,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidermolysis bullosa simplex with muscular dystrophy (EBS\u2010MD, MIM 226670) is caused by plectin defects. We performed mutational analysis and immunohistochemistry using EBS\u2010MD (n = 3 cases) and control skeletal muscle to determine pathogenesis. Mutational analysis revealed a novel homozygous plectin\u2010exon32 rod domain mutation (R2465X). All plectin\/HD1\u2010121 antibodies stained the control skeletal muscle membrane. However, plectin antibodies stained the cytoplasm of type II control muscle fibers (as confirmed by ATPase staining), whereas HD1\u2010121 stained the cytoplasm of type I fibers. EBS\u2010MD samples lacked membrane (n = 3) but retained cytoplasmic HD1\u2010121 (n = 1) and plectin staining in type II fibers (n = 3). Ultrastructurally, EBS\u2010MD demonstrated widening and vacuolization adjacent to the membrane and disorganization of Z\u2010lines (n = 2 of 3) compared to controls (n = 5). Control muscle immunogold labeling colocalized plectin and desmin to filamentous bridges between Z\u2010lines and the membrane that were disrupted in EBS\u2010MD muscle. We conclude that fiber\u2010specific plectin expression is associated with the desmin\u2010cytoskeleton, Z\u2010lines, and crucially myocyte membrane linkage, analogous to hemidesmosomes in skin. Muscle Nerve, 2006<\/jats:p>","DOI":"10.1002\/mus.20655","type":"journal-article","created":{"date-parts":[[2006,9,11]],"date-time":"2006-09-11T18:53:25Z","timestamp":1158000805000},"page":"24-35","source":"Crossref","is-referenced-by-count":47,"title":["Plectin defects in epidermolysis bullosa simplex with muscular 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