A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis

Double missense mutation in exon 41 of t

Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis

✍ Saad, Fawzy A.; Merlini, Luciano; Mostacciuolo, Maria Luisa; Danieli, Gian Anton 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 2 views

## 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 ha