Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Brain. 2014 Apr;137(Pt 4):e270. doi: 10.1093/brain/awt305. Epub 2013 Nov 14.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Female
  • Humans
  • Male
  • Muscle Proteins / genetics*
  • Muscular Diseases / complications*
  • Muscular Diseases / genetics*
  • Mutation / genetics*
  • Protein Kinases / genetics*
  • Respiratory Insufficiency / complications*
  • Respiratory Insufficiency / genetics*

Substances

  • Muscle Proteins
  • Protein Kinases