Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis.
Development of late-onset Becker muscular dystrophy is reported in a patient whose two healthy brothers showed high serum creatine kinase level. No cases of neuromuscular disorders had been previously reported in this family. The analysis of the dystrophin gene showed that the three brothers had A-->C transversion at nucleotide 6092 in exon 41, a missense mutation which converts lysine into glutamine. The symptomatic patient showed an additional mutation in the same exon, a T-->C transition at nucleotide 6119, converting a phenylalanine to leucine. The possible pathogenic role of this mutation is discussed.
Saad
F A
FA
Department of Biology, University of Padua, Italy. fawzy.saad@utoronto.ca
Merlini
L
L
Mostacciuolo
M L
ML
Danieli
G A
GA
D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation
D016189:Dystrophin