Key result
Double missense mutation in dystrophin exon 41 linked to late-onset Becker muscular dystrophy.
Case Report (n=3)
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A double missense mutation in exon 41 of the dystrophin gene may play a pathogenic role in late-onset Becker muscular dystrophy.
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.
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Saad et al. (1998) conducted a case report in Becker muscular dystrophy (n=3). Double missense mutation in exon 41 of the human dystrophin gene vs. Single missense mutation was evaluated on Genetic mutation analysis. A symptomatic patient with late-onset Becker muscular dystrophy harbored a double missense mutation in exon 41 of the dystrophin gene, while his two healthy brothers had only a single mutation.
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