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Familial deletion in Becker type muscular dystrophy within the pXJ region

✍ Scribed by Sabina Liechti-Gallati; Suzanne Braga; Hans Hirsiger; Hans Moser

Publisher
Springer
Year
1987
Tongue
English
Weight
300 KB
Volume
77
Category
Article
ISSN
0340-6717

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A small deletion in the Duchenne/Becker
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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

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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