| Literature DB >> 7897627 |
L Florentin1, A Mavrou, K Kekou, C Metaxotou.
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.Entities:
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Year: 1995 PMID: 7897627 PMCID: PMC1050179 DOI: 10.1136/jmg.32.1.48
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318