A Multi-Technique Molecular Analysis of a DMD Family With Two Independent Mutational Events and a Manifesting Pregnant Woman. Bioinformatic Analysis of Molecular Scars at Breakpoint Junctions and Hypothesization of the Underlying Molecular Mechanisms.
Abstract:Our work depicts a familial Duchenne muscular dystrophy case with a complex structural variant (cxSV) and a manifesting pregnant woman. Were our aims to provide molecular diagnosis and hypothesize mechanisms underlying the origin of the cxSV. We implemented a multi-technique approach including MLPA, STRs-segregation, AR-assay, SNP-array, WGS and a bioinformatic algorithm for identification of double strand breaks (DSB) stimulator motifs. We established the carrier status of the prenatal sample and explained it… Show more
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