title: A possible missense mutation detected in the dystrophin gene by Double-Strand Conformation Analysis (DSCA).
abstract: A new and simple method for detecting point mutations is presented. The method, based on Double-Strand Conformation Analysis (DSCA) of PCR amplification products in polyacrylamide gel electrophoresis, was applied to 78 unrelated subjects affected with Duchenne or Becker muscular dystrophy and to 9 subjects suspected to be affected with an atypical dystrophinopathy. An A-->G substitution in the nucleotide 2525, which changes the codon for lysine to a codon for glutamic acid was detected in an 8-year-old boy, with normal neurological examination, but showing increased CK level and an abnormal EMG. The muscle biopsy was normal, without features of necrosis or regeneration. Immunoreactions with anti-dystrophin antibodies showed a normal distribution and intensity of the staining. A review of the dystrophin mutations detected so far is included.
authors.affiliation: Department of Biology, University of Padua, Italy.
authors.forename: F A
authors.initials: FA
authors.lastname: Saad
authors.forename: G
authors.initials: G
authors.lastname: Vita
authors.forename: L
authors.initials: L
authors.lastname: Toffolatti
authors.forename: G A
authors.initials: GA
authors.lastname: Danieli
mesh_terms: D001483:Base Sequence; D002648:Child; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D004576:Electromyography; D005796:Genes; D006801:Humans; D008297:Male; D008968:Molecular Conformation; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D016189:Dystrophin