Charcot Marie Tooth disease 2H (CMT2H)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Charcot Marie Tooth disease 2H (CMT2H). This is caused by mutations in the GDAP1 gene on chromosome 8q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the GDAP1 gene on chromosome 8q
  • This also causes CMT4A
  • The onset is in the first decade

Clinical features

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Acronym

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References

  1. Barhoumi C, Amouri R, Ben Hamida C, et al. Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromuscul Disord 2001; 11:27-34.

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