Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

@article{Nicot2007MutationsIA,
  title={Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy},
  author={A. Nicot and A. Toussaint and V. Tosch and C. Kretz and C. Wallgren‐Pettersson and E. Iwarsson and H. Kingston and J. Garnier and V. Biancalana and A. Oldfors and J. Mandel and J. Laporte},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={1134-1139}
}
Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not secondary to regeneration. The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), whereas mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases. By direct sequencing of functional candidate genes, we identified homozygous mutations in amphiphysin 2 (BIN1) in three families… Expand
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