Charcot Marie Tooth disease 2R (CMT2R)

Evidence-based neurology checklist on charcot marie tooth disease 2r (cmt2r): Genetics This is caused by mutations in the TRIM2 gene on chromosome 4q It is early onset age Peripheral features Cranial nerve features Skeletal features Acronym

Genetics

  • This is caused by mutations in the TRIM2 gene on chromosome 4q
  • It is early onset age

Peripheral features

Cranial nerve features

Skeletal features

Acronym

References

  1. Ylikallio E, Pöyhönen R, Zimon M, et al. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet 2013; 22:2975-2983. 
  2. Pehlivan D, Coban Akdemir Z, et al. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet 2015; 134:671-673.
  3. Magri S, Danti FR, Balistreri F, et al. Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2020; 25:429-432.

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