ArticleJournal of medical genetics1995
Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Targeted sequencing of theThe Indian journal of medical research · 2019Article
- Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2007Article
- The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Journal of medical genetics · 1997Article
- Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region.Human genetics · 1995Article
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Authors and funding
4 authors.
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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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