Charcot Marie Tooth disease 2W (CMT2W)

Evidence-based neurology checklist on charcot marie tooth disease 2w (cmt2w): Genetics This is caused by mutations in the HARS on chromosome 5q The onset is from childhood to late adulthood Neurological features Foot deformities Acronym

Genetics

  • This is caused by mutations in the HARS on chromosome 5q
  • The onset is from childhood to late adulthood

Neurological features

Foot deformities

Acronym

References

  1. Safka Brozkova D, Deconinck T, Griffin LB, et al. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain 2015; 138:2161-2172.

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