Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

Am J Med Genet A. 2003 Apr 30;118A(3):296-8. doi: 10.1002/ajmg.a.10056.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Dystrophin / genetics*
  • Exons
  • Family Health
  • Female
  • Haplotypes
  • Humans
  • Male
  • Models, Genetic
  • Mosaicism*
  • Muscular Dystrophy, Duchenne / genetics*
  • Mutation
  • Phenotype
  • Phylogeny
  • Point Mutation*

Substances

  • Dystrophin