Patterns of exon deletions in Duchenne and Becker muscular dystrophy.
A panel of patients with Duchenne and Becker muscular dystrophy (DMD and BMD) has been screened with the cDNA probes Cf56a and Cf23a, which detect exons in the central part of the DMD gene. One or more exons were deleted in 60% of patients. The deletions were mapped and prove to be heterogeneous in size and extent, particularly in DMD. Deletions specific to DMD and to BMD are described. Half of all BMD patients have a deletion of one particular small group of exons; smaller deletions within this same group produce the more severe DMD.
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A P
AP
Department of Medical Genetics, St. Mary's Hospital, Manchester, UK.
Mountford
R C
RC
Forrest
S M
SM
Kenwrick
S J
SJ
Davies
K E
KE
Harris
R
R
D002872:Chromosome Deletion; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D015183:Restriction Mapping; D014960:X Chromosome