Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1058-60. doi: 10.1136/jnnp-2014-307608. Epub 2014 Mar 7.
No abstract available

Keywords: GENETICS; NEUROMUSCULAR.

Publication types

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

MeSH terms

  • Adult
  • Base Sequence / genetics*
  • Cofilin 2 / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Infant
  • Male
  • Myopathies, Nemaline / genetics*
  • Pedigree
  • Sequence Deletion / genetics*

Substances

  • CFL2 protein, human
  • Cofilin 2