Very small dystrophin molecule in a family with a mild form of Becker dystrophy.
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.
Morandi
L
L
Department of Neuromuscular Diseases, Istituto Neurologico Carlo Besta, Milano, Italy.
Mora
M
M
Bernasconi
P
P
Mantegazza
R
R
Gebbia
M
M
Balestrini
M R
MR
Cornelio
F
F
D000328:Adult; D015139:Blotting, Southern; D002648:Child; D004247:DNA / Q000097:blood; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D015151:Immunoblotting; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D008970:Molecular Weight; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction
D016189:Dystrophin; D004247:DNA