Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene
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DOI: 10.1016/j.jocn.2020.04.065
Abstract: Duchenne Muscle dystrophy (DMD) is a X-linked inherited disease predominantly caused by severe mutations in DMD gene leading to absence of dystrophin protein. Here we report a 14-year-old Mongolian boy suffering from proximal muscle weakness,… read more here.
Keywords: dmd gene; duchenne muscle; mutation; muscle dystrophy ... See more keywords