Charcot Marie Tooth disease 2Z (CMT2Z)

Evidence-based neurology checklist on charcot marie tooth disease 2z (cmt2z): Genetics This is caused by mutations in the MORC2 gene on chromosome 22q It is usually sporadic The onset is usually in the first to second decades Core clinical features Occasional clinical features Acronym

Genetics

  • This is caused by mutations in the MORC2 gene on chromosome 22q
  • It is usually sporadic
  • The onset is usually in the first to second decades

Core clinical features

Occasional clinical features

Acronym

References

  1. Sevilla T, Lupo V, Martínez-Rubio D, et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain 2016; 139:62-72. 
  2. Albulym OM, Kennerson ML, Harms MB, et al. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Ann Neurol 2016; 79:419-427. 
  3. Ando M, Okamoto Y, Yoshimura A, et al. Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan. Eur J Neurol 2017; 24:1274-1282. 

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