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• W2090212205 abstract "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 DMD exon 18 and flanking introns that caused a frame-shift and was not removed by corrective splicing. A coincident mutation in the FKRP 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" @default.
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• W2090212205 date "2007-01-01" @default.
• W2090212205 modified "2023-10-03" @default.
• W2090212205 title "Tandem duplication ofDMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities" @default.
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• W2090212205 doi "https://doi.org/10.1002/mus.20705" @default.
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