PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach. (Arq Neuropsiquiatr. 2007 Mar;65(1):73-6). Authors are Freund AA Scola RH Arndt RC et al., from the Neuromuscular/Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Brazil. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3′ region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. To access the full abstract of the article, click here.
513