[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy]

Med Sci (Paris). 2007 Dec;23(12):1080-2. doi: 10.1051/medsci/200723121080.
[Article in French]
No abstract available

Publication types

  • News

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Genes, Recessive
  • Humans
  • Muscle, Skeletal / pathology
  • Mutation*
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / pathology
  • Nuclear Proteins / genetics*
  • Tumor Suppressor Proteins / genetics*

Substances

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