Article
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
International journal of molecular sciences - 28 Sept 2023
Erbe Leoni S, Hoffjan Sabine, Janßen Sören, Kneifel Moritz, Krause Karsten, Gerding Wanda M, Döring Kristina, Güttsches Anne-Katrin, Roos Andreas, Buena Atienza Elena, Gross Caspar, Lücke Thomas, Nguyen Hoa Huu Phuc, Vorgerd Matthias, Köhler Cornelia
Abstract excerpt
Duchenne muscular dystrophy (DMD) is a severe progressive muscle disease that mainly affects boys due to X-linked recessive inheritance. In most affected individuals, MLPA or sequencing-based techniques detect deletions, duplications, or point mutations in the dystrophin-encoding DMD gene. However, in a small subset of patients clinically diagnosed with DMD, the molecular cause is not identified with these...
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