A novel insertional mutation of a single base on exon 12 of the dystrophin gene

Clin Genet. 1995 Sep;48(3):128-30. doi: 10.1111/j.1399-0004.1995.tb04071.x.

Abstract

A new point mutation in exon 12 of the dystrophin gene was identified in a DMD patient using multiple SSCP analysis, which allows the simultaneous study of several exons. The mutation is an A insertion at position 1580 of the cDNA sequence, leading to a stop codon in the translational reading frame. This mutation was not observed in a sample of 70 DMD patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine
  • Base Sequence
  • Child
  • Dystrophin / genetics*
  • Exons*
  • Humans
  • Male
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Mutagenesis, Insertional*
  • Point Mutation*
  • Protein Biosynthesis

Substances

  • Dystrophin
  • Adenine