Myostatin mutation associated with gross muscle hypertrophy in a child

N Engl J Med. 2004 Jun 24;350(26):2682-8. doi: 10.1056/NEJMoa040933.
No abstract available

Publication types

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

MeSH terms

  • DNA Mutational Analysis
  • Female
  • Humans
  • Hypertrophy / genetics
  • Infant, Newborn
  • Male
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / pathology*
  • Muscular Diseases / genetics
  • Mutation*
  • Myostatin
  • Pedigree
  • Phenotype
  • RNA, Messenger / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transforming Growth Factor beta / genetics*
  • Ultrasonography

Substances

  • MSTN protein, human
  • Myostatin
  • RNA, Messenger
  • Transforming Growth Factor beta