A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin

Am J Med Genet A. 2010 Apr;152A(4):1039-42. doi: 10.1002/ajmg.a.33312.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Autistic Disorder / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, X / genetics
  • Dystrophin / genetics*
  • Exons / genetics
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Muscular Dystrophy, Duchenne / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Pregnancy
  • Sequence Deletion / genetics*

Substances

  • Dystrophin