A possible missense mutation detected in the dystrophin gene by Double-Strand Conformation Analysis (DSCA)

Neuromuscul Disord. 1994 Jul;4(4):335-41. doi: 10.1016/0960-8966(94)90069-8.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child
  • Dystrophin / genetics*
  • Dystrophin / metabolism
  • Electromyography
  • Genes*
  • Humans
  • Male
  • Molecular Conformation
  • Molecular Sequence Data
  • Muscles / metabolism
  • Muscles / physiopathology
  • Muscular Dystrophies / genetics
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • Dystrophin

Grants and funding