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Recent studies have reported a higher prevalence of autism spectrum disorders among patients with dystrophinopathies. The aim of this study was to investigate the prevalence of autism spectrum disorder (ASD) among those with dystrophinopathies. The possible role of dystrophin isoforms in patients was also explored. Fifty-six patients recruited from Toneyama National Hospital were included in this...
Introduction Duchenne muscular dystrophy (DMD) is a devastating, progressive neuromuscular disorder for which there is no cure. As the dystrophin gene is located on the X chromosome, DMD occurs predominately in males. DMD is caused by a lack of functional dystrophin protein resulting from mutations in the 2.2-Mb DMD gene, whichdisrupts the reading frame. Care considerations for DMD advocate a coordinated,...
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