โ Scribed by Saad, Fawzy A.; Merlini, Luciano; Mostacciuolo, Maria Luisa; Danieli, Gian Antonio
No coin nor oath required. For personal study only.
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 โ 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 โ C transition at nucleotide 6119, converting a phenylalanine to leucine. The possible pathogenic role of this mutation is discussed. Am. J.
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