Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?

Am J Med Genet. 1992 Mar 1;42(5):688-92. doi: 10.1002/ajmg.1320420512.


We report on a kindred segregating 2 distinct mutations of a dystrophin gene. DNA analysis showed that the second mutation, a deletion, arose in the same gene carrying the primary defect which produced a Becker phenotype in the affected males. The DNA data for this family are reported and the alternative explanations of chance occurrence and premutation are discussed to explain these unusual findings.

Publication types

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

MeSH terms

  • Child
  • Chromosome Deletion*
  • DNA / analysis
  • Dystrophin / genetics*
  • Fetal Diseases / genetics
  • Fluorescent Antibody Technique
  • Haplotypes
  • Humans
  • Male
  • Muscular Dystrophies / genetics*
  • Mutation / genetics
  • Pedigree


  • Dystrophin
  • DNA