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Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

✍ Scribed by Verónica Ferreiro; Florencia Giliberto; García M. Noelia Muñiz; Liliana Francipane; Diego M. Marzese; Alejandra Mampel; María Roqué; Gustavo D. Frechtel; Irene Szijan

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
219 KB
Volume
39
Category
Article
ISSN
0148-639X

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We studied 38 unrelated patients from southern France with Duchenne (DMD) or Becker (BMD) muscular dystrophy for intragenic deletions of the DMD/BMD gene. We used both multiplex amplification of selected exons and cDNA probes. Of the 26 (68%) unrelated individuals found to have deletions, 24 (92%) w

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A DNA deletion in a patient with Becker muscular dystrophy (BMD) has been delineated by restriction endonuclease mapping. The deletion is unusually small, removing six kilobases (kb) of DNA distal to pERT 87-1 (DXS164). This region has previously been shown to contain an exon of a candidate gene whi