Charcot Marie Tooth disease 2P (CMT2P)

Evidence-based neurology checklist on charcot marie tooth disease 2p (cmt2p): Genetics and pathology This is caused by mutations in the LRSAM1 gene on chromosome 9q The transmission is autosomal dominant or recessive The mutation probably causes anterior horn cell damage The onset is in early…

Genetics and pathology

  • This is caused by mutations in the LRSAM1 gene on chromosome 9q
  • The transmission is autosomal dominant or recessive
  • The mutation probably causes anterior horn cell damage
  • The onset is in early adulthood
  • It was previously designated CMT2G

Clinical features

Nerve conduction studies (NCS): features

Other investigations

Acronym

References

  1. Hakonen JE, Sorrentino V, Avagliano Trezza R, et al. LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P. Hum Mol Genet 2017; doi: 10.1093/hmg/ddx089 (Epub ahead of print).
  2. Engeholm M, Sekler J, Schöndorf DC, et al. A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance. BMC Neurol 2014; 14:118. 
  3. Peeters K, Palaima P, Pelayo-Negro AL, et al. Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. Ann Neurol 2016; 80:823-833.

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