Publication:

Mutations in dynamin 2 cause dominant centronuclear myopathy (2005)

Author(s): Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P

    Abstract: Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, we identified recurrent and de novo missense mutations in the gene dynamin 2 (DNM2, 19p13.2), which encodes a protein involved in endocytosis and membrane trafficking, actin assembly and centrosome cohesion. The transfected mutants showed reduced labeling in the centrosome, suggesting that DNM2 mutations might cause centronuclear myopathy by interfering with centrosome function.

      • Date: 16-10-2005
      • Journal: Nature Genetics
      • Volume: 37
      • Issue: 11
      • Pages: 1207-1209
      • Publisher: Nature Publishing Group
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Actins Cell Membrane/metabolism Centrosome/metabolism Dynamin II/ genetics Endocytosis Female Genes, Dominant Humans Male Mutation, Missense/ genetics Myopathies, Structural, Congenital/ genetics Polymorphism, Single Nucleotide/genetics Sequence Analysis, DNA

      Staff

      Professor Hanns Lochmuller
      Professor of Experimental Myology