Charcot Marie Tooth disease 2Z (CMT2Z)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Charcot Marie Tooth disease 2Z (CMT2Z). This is caused by mutations in the MORC2 gene on chromosome 22q. Fully referenced neurology checklist.

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

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Occasional clinical features

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Acronym

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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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