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Duchenne muscular dystrophy (DMD) is caused by a mutation in DMD, a gene encoding for dystrophin, a protein that stabilizes the sarcolemma. The absence of dystrophin leads to widespread myonecrosis; death typically results from cardiopulmonary complications. Despite our advanced understanding of DMD pathophysiology, treatment remains largely palliative. Stem cell transplantation has long been considered a potential treatment for DMD but has not been thoroughly investigated. Now, researchers report results of stem cell transplantation in a young boy with a diagnosis of chronic granulomatous disease (CGD) in infancy and, subsequently, a diagnosis of DMD. (Genes for each of these conditions are located on the X chromosome.)
Starting at age 16 m…