A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).

@article{McLaughlin2012ARL,
  title={A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).},
  author={Heather M. McLaughlin and Reiko Sakaguchi and William Giblin and Thomas E Wilson and Leslie G. Biesecker and James R Lupski and Kevin Talbot and Jeffery M. Vance and Stephan Z{\"u}chner and Yi-Chung Lee and Marina L Kennerson and Y S Hou and G. E. Nicholson and Anthony Antonellis},
  journal={Human mutation},
  year={2012},
  volume={33 1},
  pages={244-53}
}
Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated in CMT disease. ARSs are ubiquitously expressed, essential enzymes that ligate amino acids to cognate tRNA molecules. Recently, a p.Arg329His variant in the alanyl-tRNA synthetase (AARS) gene was found to segregate with dominant axonal CMT… CONTINUE READING
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