Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.
Open Access
- 1 January 1995
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (1) , 48-51
- https://doi.org/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.Keywords
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