Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene.
We have isolated overlapping human fetal muscle cDNAs encompassing 2.6kb which are localised very close to the 5' end of the Duchenne muscular dystrophy (DMD) gene. Using DNA from patients with deletions of previously reported genomic probes, we have mapped the exons across the region. Investigation of deletions in both DMD and Becker muscular dystrophy (BMD) patients shows the deletions to be present in 10% of cases and heterogeneous.
Smith
T J
TJ
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, UK.
Forrest
S M
SM
Cross
G S
GS
Davies
K E
KE
D000328:Adult; D002872:Chromosome Deletion; D003001:Cloning, Molecular / Q000379:methods*; D005091:Exons; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D009132:Muscles / Q000032:analysis*; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D009693:Nucleic Acid Hybridization; D012333:RNA, Messenger / Q000032:analysis*; D014178:Translocation, Genetic
D012333:RNA, Messenger