Charcot Marie Tooth disease 2K (CMT2K)

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

Charcot Marie Tooth disease 2K (CMT2K). The autosomal recessive form is caused by mutations in the JPH1 gene. Fully referenced neurology checklist.

Genetic mutations (Chromosome 8q)

  • The autosomal recessive form is caused by mutations in the JPH1 gene
  • The autosomal dominant milder type is caused by mutations in the GDAP1 gene
  • The onset is in early childhood: it may be later with GDAP1 mutations

Clinical features

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Acronym

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References

  1. Birouk N, Azzedine H, Dubourg O, et al. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Arch Neurol 2003; 60:598-604.
  2. Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H. A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. Clin Genet 2008; 74:274-278. 
  3. Zimoń M, Baets J, Fabrizi GM, et al. Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Neurology 2011; 77:540-548.

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