Charcot Marie Tooth disease 2DD (CMT2DD)

Evidence-based neurology checklist on charcot marie tooth disease 2dd (cmt2dd): Genetics This is caused by mutations in the ATP1A1 gene on chromosome 1p The mutations decouple ATP hydrolysis and phosphorylation The transmission is autosomal dominant The onset age is from childhood to adulthood…

Genetics

  • This is caused by mutations in the ATP1A1 gene on chromosome 1p
  • The mutations decouple ATP hydrolysis and phosphorylation
  • The transmission is autosomal dominant
  • The onset age is from childhood to adulthood

Clinical features

Nerve conduction studies (NCS): features

References

  1. Lassuthova P, Rebelo AP, Ravenscroft G, et al. Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth type 2. Am J Hum Genet 2018; 102:505-514.

Related checklists

Loading...