Very small dystrophin molecule in a family with a mild form of Becker dystrophy

• Published in: Neuromuscular disorders : NMD Vol. 3; no. 1; pp. 65 - 70
• Main Authors: Morandi, L., Mora, M., Bernasconi, P., Mantegazza, R., Gebbia, M., Balestrini, M.R., Cornelio, F.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 1993
• Subjects: Adult; Becker muscular dystrophy; Blotting, Southern; Child; DNA - blood; Dystrophin - analysis; Dystrophin - genetics; dystrophin gene deletions; Female; Genetic Carrier Screening; Humans; Immunoblotting; Lymphocytes - metabolism; Male; Middle Aged; Molecular Weight; Muscles - pathology; Muscular Dystrophies - genetics; Muscular Dystrophies - pathology; Polymerase Chain Reaction; Becker muscular dystrophy; dystrophin analysis; dystrophin gene deletions
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/0960-8966(93)90043-J

The genetic defect in a family with a mild form of Becker dystrophy was characterized by immunocytochemical, immunoblot and genomic DNA analysis in two patients and a carrier. Immunocytochemical localization on muscle preparations with a series of antibodies against different regions of the dystrophin molecule showed normal dystrophin expression with all the antibodies except anti-30 kDa antiserum. In the carrier's muscle, mosaicism was observed only with the anti-30 kDa. Immunoblot analysis revealed a band of about 250 kDa in the patients' muscles and a double band of normal and of reduced weight protein in carrier muscle. In the patients Multiplex-PCR (M-PCR) and Southern blot revealed deletions from exon 13 to exon 41. The study confirms that very mild Becker muscular dystrophy can be associated with a large intragenic deletion from the dystrophin gene.