{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T22:44:40Z","timestamp":1759099480246},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,12,1]],"date-time":"2006-12-01T00:00:00Z","timestamp":1164931200000},"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":[[2007,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a patient with Duchenne muscular dystrophy (DMD) who additionally suffered from intractable seizures, severe mental retardation, and a marked macroglossia. He also had endocrinologic abnormalities consisting of growth hormone deficiency, delayed puberty, and adrenal hypoplasia. We detected a duplication of <jats:italic>DMD<\/jats:italic> exon 18 and flanking introns that caused a frame\u2010shift and was not removed by corrective splicing. A coincident mutation in the <jats:italic>FKRP<\/jats:italic> gene was excluded by direct sequencing. Complex DNA rearrangements, deletions, and duplications &gt;100 kb were excluded through microarray\u2013comparative genomic hybridization (CGH), although we were not able to exclude a second coincident mutation with certainty. In conclusion, we present a case of DMD that conflicts with current understanding of genotype\u2013phenotype relations and discuss putative pathogenetic mechanisms for this uncommon phenotype. 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