Charcot Marie Tooth disease 2N (CMT2N)

Evidence-based neurology checklist on charcot marie tooth disease 2n (cmt2n): Genetics This is caused by mutations in the AARS gene on chromosome 16q The onset age may be early to late Clinical features Acronym

Genetics

  • This is caused by mutations in the AARS gene on chromosome 16q
  • The onset age may be early to late

Clinical features

Acronym

References

  1. Latour P, Thauvin-Robinet C, Baudelet-Méry C, et al. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet 2010; 86:77-82. 
  2. Lin KP, Soong BW, Yang CC, et al. The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. PLoS One 2011; 6:e29393.
  3. McLaughlin HM, Sakaguchi R, Giblin W, et al. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat 2012; 33:244-253. 

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