Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

Neurology. 2010 Feb 9;74(6):519-21. doi: 10.1212/WNL.0b013e3181cef7f9.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Family Health
  • Humans
  • Male
  • Myopathies, Structural, Congenital / genetics*
  • Nuclear Proteins / genetics*
  • Phenotype*
  • Tumor Suppressor Proteins / genetics*
  • Young Adult

Substances

  • Adaptor Proteins, Signal Transducing
  • BIN1 protein, human
  • Nuclear Proteins
  • Tumor Suppressor Proteins