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  • Title: Very small dystrophin molecule in a family with a mild form of Becker dystrophy.
    Author: Morandi L, Mora M, Bernasconi P, Mantegazza R, Gebbia M, Balestrini MR, Cornelio F.
    Journal: Neuromuscul Disord; 1993 Jan; 3(1):65-70. PubMed ID: 8329891.
    Abstract:
    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.
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