"Genetic and Biochemical Normalization in Female Carriers of Duchenne Muscular Dystrophy: Evidence for Failure of Dystrophin Production in Dystrophin-Competent Myonuclei."

According to the authors' abstract of an article published in Neurology, "We studied 19 symptomatic female carriers of the Duchenne muscular dystrophy (DMD) gene. Most of these dystrophinopathy patients had had an erroneous or ambiguous diagnosis prior to dystrophin immunofluorescence testing. We assessed clinical severity by a standardized protocol, measured X-chromosome inactivation patterns in blood and muscle DNA, and quantitated the dystrophin protein content of muscle. We found that patients could be separated into two groups: those showing equal numbers of normal and mutant dystrophin genes in peripheral blood DNA ('random' X-inactivation), and those showing preferential use of...

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