Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression

Muscle Nerve. 2014 Jan;49(1):144-5. doi: 10.1002/mus.23981. Epub 2013 Dec 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Biopsy
  • Cardiomyopathy, Dilated / diagnosis
  • Cardiomyopathy, Dilated / genetics*
  • Child, Preschool
  • Dystrophin / genetics
  • Dystrophin / metabolism*
  • Humans
  • Male
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation / genetics*
  • Sarcoglycans / genetics*

Substances

  • Dystrophin
  • Sarcoglycans