Deletion patterns of Duchenne and Becker muscular dystrophies in Greece

J Med Genet. 1995 Jan;32(1):48-51. doi: 10.1136/jmg.32.1.48.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Dystrophin / genetics
  • Exons
  • Greece
  • Humans
  • Introns
  • Male
  • Muscular Dystrophies / genetics*
  • Sequence Deletion*

Substances

  • Dystrophin