Beschreibung:
<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‐shift 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 >100 kb were excluded through microarray–comparative 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–phenotype relations and discuss putative pathogenetic mechanisms for this uncommon phenotype. Muscle Nerve, 2006</jats:p>