Mutations in dynamin 2 cause dominant centronuclear myopathy

@article{Bitoun2005MutationsID,
  title={Mutations in dynamin 2 cause dominant centronuclear myopathy},
  author={Marc Bitoun and Svetlana Maugenre and P Y Jeannet and Emmanuelle Lac{\`e}ne and Xavier C. Ferrer and Pascal Lafor{\^e}t and J V Martin and Jocelyn Laporte and Hanns Lochm{\"u}ller and Alan H. Beggs and Michel Fardeau and Bruno Eymard and Norma Beatriz Romero and Pascale Guicheney},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={1207-1209}
}
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… CONTINUE READING
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