Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

Neurology. 2012 Apr 3;78(14):1100-3. doi: 10.1212/WNL.0b013e31824e8ebe. Epub 2012 Mar 21.
No abstract available

Publication types

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

MeSH terms

  • Actins / genetics*
  • Fatal Outcome
  • Humans
  • Infant
  • Male
  • Muscle Hypertonia / complications
  • Muscle Hypertonia / diagnosis
  • Muscle Hypertonia / genetics*
  • Mutation / genetics*
  • Myopathies, Nemaline / complications
  • Myopathies, Nemaline / diagnosis*
  • Myopathies, Nemaline / genetics*

Substances

  • Actins