Charcot Marie Tooth disease 2F (CMT2F)

Evidence-based neurology checklist on charcot marie tooth disease 2f (cmt2f): Genetics This is caused by mutations in the HSPB1 gene on chromosome 7q The onset is in the second to seventh decades Clinical features Acronym

Genetics

  • This is caused by mutations in the HSPB1 gene on chromosome 7q
  • The onset is in the second to seventh decades

Clinical features

Acronym

References

  1. Ismailov SM, Fedotov VP, Dadali EL, et al. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur J Hum Genet 2001; 9:646-650.
  2. Tang B, Liu X, Zhao G, et al. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. Arch Neurol 2005; 62:1201-1207.
  3. And 0 more. Subscribe to see the full list

Related checklists

Loading...