Charcot Marie Tooth disease 2X (CMT2X)

Evidence-based neurology checklist on charcot marie tooth disease 2x (cmt2x): Genetics This is caused by mutations in the SPG11 gene on chromosome 15q The mean onset age is in the second decade Gene related disorders Clinical features Occasional features Acronym

Genetics

  • This is caused by mutations in the SPG11 gene on chromosome 15q
  • The mean onset age is in the second decade

Gene related disorders

Clinical features

Occasional features

Acronym

References

  1. Montecchiani C, Pedace L, Lo Giudice T, et al. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain 2016; 139:73-85.

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