Clinical Utility Gene Card For: Centronuclear and Myotubular Myopathies

Eur J Hum Genet. 2012 Oct;20(10). doi: 10.1038/ejhg.2012.91. Epub 2012 May 23.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Dynamin II / genetics
  • Genetic Testing / methods
  • Humans
  • Myopathies, Structural, Congenital / diagnosis
  • Myopathies, Structural, Congenital / genetics*
  • Nuclear Proteins / genetics
  • Phosphoric Monoester Hydrolases / genetics
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics
  • Ryanodine Receptor Calcium Release Channel / genetics
  • Tumor Suppressor Proteins / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • BIN1 protein, human
  • Nuclear Proteins
  • Ryanodine Receptor Calcium Release Channel
  • Tumor Suppressor Proteins
  • MTMR14 protein, human
  • Phosphoric Monoester Hydrolases
  • Protein Tyrosine Phosphatases, Non-Receptor
  • myotubularin
  • Dynamin II