Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita

Muscle Nerve. 2010 Mar;41(3):427-8. doi: 10.1002/mus.21548.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chloride Channels / genetics
  • Genetic Predisposition to Disease
  • Genetic Variation / genetics*
  • Humans
  • Hypertrophy / genetics*
  • Hypertrophy / pathology
  • Muscle Weakness / genetics
  • Muscle, Skeletal / pathology*
  • Mutation
  • Myostatin / genetics*
  • Myotonia Congenita / genetics*
  • Myotonia Congenita / pathology
  • Pedigree
  • Penetrance

Substances

  • CLC-1 channel
  • Chloride Channels
  • Myostatin