Pathology provides clarity in the next-generation sequencing era

J Neurol Neurosurg Psychiatry. 2015 May;86(5):479-80. doi: 10.1136/jnnp-2014-309564. Epub 2014 Oct 13.
No abstract available

Keywords: MYOPATHY.

Publication types

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

MeSH terms

  • Connectin / genetics*
  • Cytoplasm / pathology*
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Humans
  • Male
  • Muscle Proteins / metabolism*
  • Muscular Diseases / diagnosis*
  • Protein Aggregation, Pathological / metabolism*
  • Respiratory Insufficiency / diagnosis*

Substances

  • Connectin
  • Muscle Proteins
  • TTN protein, human

Supplementary concepts

  • Hereditary Myopathy with Early Respiratory Failure