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

L. Morandi, M. Mora, P. Bernasconi, R. Mantegazza, M. Gebbia, M. R. Balestrini, F. Cornelio

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)65-70
Number of pages6
JournalNeuromuscular Disorders
Volume3
Issue number1
DOIs
Publication statusPublished - 1993

Keywords

  • Becker muscular dystrophy
  • dystrophin analysis
  • dystrophin gene deletions

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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