Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions
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DOI: 10.1016/j.nmd.2017.03.011
Abstract: Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report… read more here.
Keywords: exon deletions; muscular dystrophy; contiguous exon; heterozygous contiguous ... See more keywords