Charcot Marie Tooth disease 2T (CMT2T)

Evidence-based neurology checklist on charcot marie tooth disease 2t (cmt2t): Genetics This is caused by mutations in the MME on chromosome 3q The gene encodes neprilysin The onset is in middle age Clinical features Acronym

Genetics

  • This is caused by mutations in the MME on chromosome 3q
  • The gene encodes neprilysin
  • The onset is in middle age

Clinical features

Acronym

References

  1. Higuchi Y, Hashiguchi A, Yuan J, et al. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann Neurol 2016; 79:659-672.
  2. Auer-Grumbach M, Toegel S, Schabhüttl M, et al. Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies. Am J Hum Genet 2016; 99:607-623.
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