A common nonsense mutation results in α-actinin-3 deficiency in the general population

@article{North1999ACN,
  title={A common nonsense mutation results in $\alpha$-actinin-3 deficiency in the general population},
  author={K. North and N. Yang and D. Wattanasirichaigoon and M. Mills and S. Easteal and A. Beggs},
  journal={Nature Genetics},
  year={1999},
  volume={21},
  pages={353-354}
}
T he α-actinins are actin-binding proteins encoded by a multigene family. In skeletal muscle, they are a major structural component of the Z-lines that anchor the actin-containing thin filaments and maintain the spatial relationship between myofilaments 1. In humans, two genes (ACTN2 and ACTN3) encode the closely related α-actinin-2 and α-actinin-3 skeletal muscle iso-forms 2. ACTN2 is expressed in all skeletal muscle fibres, whereas expression of ACTN3 is limited to a subset of type 2 (fast… Expand

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