Charcot Marie Tooth disease 2S (CMT2S)

Evidence-based neurology checklist on charcot marie tooth disease 2s (cmt2s): Genetics This is caused by mutations in the IGHMBP2 gene on chromosome 11q It is also linked to distal spinal muscular atrophy type 1 (dSMA1) The onset age is from 6 months to 10 years Clinical features Occasional…

Genetics

  • This is caused by mutations in the IGHMBP2 gene on chromosome 11q
  • It is also linked to distal spinal muscular atrophy type 1 (dSMA1)
  • The onset age is from 6 months to 10 years

Clinical features

Occasional features

Acronym

References

  1. Cottenie E, Kochanski A, Jordanova A, et al. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet 2014; 95:590-601. 
  2. Schottmann G, Jungbluth H, Schara U, et al. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Neurology 2015; 84:523-531.

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