Charcot Marie Tooth disease 2K (CMT2K)

Evidence-based neurology checklist on charcot marie tooth disease 2k (cmt2k): 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…

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

Acronym

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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