An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier

Am J Med Genet A. 2008 Apr 15;146A(8):1067-71. doi: 10.1002/ajmg.a.32231.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations*
  • Diagnostic Errors*
  • Dystrophin / genetics*
  • Family
  • Female
  • Gene Dosage
  • Gene Duplication
  • Heterozygote*
  • Humans
  • Male
  • Mosaicism
  • Muscular Dystrophy, Duchenne / diagnosis*
  • Muscular Dystrophy, Duchenne / genetics*
  • Pedigree
  • Siblings

Substances

  • DMD protein, human
  • Dystrophin