Abstract:
:We have analyzed patient DNA samples in 77 unrelated Duchenne (DMD) and Becker (BMD) muscular dystrophy families, 73 of which were of French Canadian origin. We show that the frequency (68%) and distribution of deletions within the dystrophin gene was neither random nor unique in this population. We localized 33% of the deletions to the proximal portion of the dystrophin gene while 63% involved the exons spanning introns 43 through 55 with breakpoint clusters occurring within introns 44 and 50. Whether the dystrophin open reading frame (ORF) is maintained constrains the distribution of DMD/BMD deletions such that BMD deletions tend to be strikingly homogeneous. Finally, the conservation of the dystrophin ORF and the severity of the clinical phenotype were concordant in 95% of the DMD/BMD deletions documented by this work.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Simard LR,Gingras F,Delvoye N,Vanasse M,Melançon SB,Labuda Ddoi
10.1007/BF00194314keywords:
subject
Has Abstractpub_date
1992-06-01 00:00:00pages
419-24issue
4eissn
0340-6717issn
1432-1203journal_volume
89pub_type
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