We have identified 7 patients with Becker muscular dystrophy (BMD) in whom analysis of dystrophin by immunoblotting shows a full-sized molecule produced at reduced abundance compared with controls. They have no detectable deletion in their dystrophin cDNA. One patient presented atypically with unusu
✦ LIBER ✦
G.P.7.05 Becker muscular dystrophy with a stop codon mutation in the 5′ of the dystrophin gene
✍ Scribed by F. Magri; R. Del Bo; F. Fortunato; S. Ghezzi; R. Cagliani; M. Sironi; M.G. D’Angelo; V. Crugnola; M. Moggio; N. Bresolin; G.P. Comi
- Book ID
- 116793598
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 58 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0960-8966
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