Mutations in dynamin 2 cause dominant centronuclear myopathy.

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.

• Authors: Marc Bitoun, Svetlana Maugenre, Pierre-Yves Jeannet, Emmanuelle Lacène, Xavier Ferrer, Pascal Laforêt, Jean-Jacques Martin, Jocelyn Laporte, Hanns Lochmüller, Alan H Beggs, Michel Fardeau, Bruno Eymard, Norma B Romero, Pascale Guicheney
• Journal: Nature genetics (Nat Genet) Vol. 37 Issue 11 Pg. 1207-9 (Nov 2005) ISSN: 1061-4036 [Print] United States
• PMID: 16227997 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• Actins
• Dynamin II

Topics

• 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