Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis
Corresponding Author
Fawzy A. Saad
Department of Biology, University of Padua, Padua, Italy
Department of Genetics, University of Tanta, Kafr El Sheikh, Egypt
University of Padua, Via Trieste 75, I-35121 Padova, ItalySearch for more papers by this authorLuciano Merlini
Neuromuscular Laboratory, Rizzoli Institute, University of Bologna, Bologna, Italy
Search for more papers by this authorMaria Luisa Mostacciuolo
Department of Biology, University of Padua, Padua, Italy
Search for more papers by this authorGian Antonio Danieli
Department of Biology, University of Padua, Padua, Italy
Search for more papers by this authorCorresponding Author
Fawzy A. Saad
Department of Biology, University of Padua, Padua, Italy
Department of Genetics, University of Tanta, Kafr El Sheikh, Egypt
University of Padua, Via Trieste 75, I-35121 Padova, ItalySearch for more papers by this authorLuciano Merlini
Neuromuscular Laboratory, Rizzoli Institute, University of Bologna, Bologna, Italy
Search for more papers by this authorMaria Luisa Mostacciuolo
Department of Biology, University of Padua, Padua, Italy
Search for more papers by this authorGian Antonio Danieli
Department of Biology, University of Padua, Padua, Italy
Search for more papers by this authorAbstract
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. Am. J. Med. Genet. 80:99–102, 1998. © 1998 Wiley-Liss, Inc.
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