Duchenne muscular dystrophy (DMD) is the most common hereditary cause of neuromuscular weakness and the most common of X-linked recessive diseases. It is caused by a mutation in the DMD gene located on chromosome X, 21.2 locus that encodes the dystrophin protein. Nucleic acid analytical techniques have advanced so much that the identification of potential carriers is possible by assessment of the causative mutations. The following case report describes the identification of a denovo dystrophin gene mutation in a carrier female and the subsequent antenatal workup of her present pregnancy
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