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Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.
  1. L Florentin,
  2. A Mavrou,
  3. K Kekou,
  4. C Metaxotou
  1. 1st Department of Paediatrics, Athens University, Aghia Sophia Children's Hospital, Greece.

    Abstract

    We present molecular data from 90 Greek boys with Duchenne or Becker muscular dystrophy using cDNA analysis or multiplex PCR or both. Deletions were detected in 63.3% of patients and were mainly clustered in two areas of the gene, one in the 3' and one in the 5' end of the gene (exons 3-19 and 44-53). Almost 17% of deletion breakpoints lay in intron 44 while 29% of deletions have a breakpoint in intron 50. Thus the distribution of deletions in our DMD/BMD patients differs from that previously reported. Furthermore a 1:4.35 proximal:distal ratio was observed in familial cases and a 1:2.45 ratio in isolated ones.

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