title: Deletion patterns of Duchenne and Becker muscular dystrophies in 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.
authors.affiliation: 1st Department of Paediatrics, Athens University, Aghia Sophia Children's Hospital, Greece.
authors.forename: L
authors.initials: L
authors.lastname: Florentin
authors.forename: A
authors.initials: A
authors.lastname: Mavrou
authors.forename: K
authors.initials: K
authors.lastname: Kekou
authors.forename: C
authors.initials: C
authors.lastname: Metaxotou
mesh_terms: D002648:Child; D016189:Dystrophin / Q000235:genetics; D005091:Exons; D006115:Greece; D006801:Humans; D007438:Introns; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D016189:Dystrophin