Charcot Marie Tooth disease 2B (CMT2B)

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

Charcot Marie Tooth disease 2B (CMT2B). This is caused by mutations in the RAB7A gene on chromosome 3q. Fully referenced neurology checklist.

Genetics of autosomal dominant axonal CMT2B

  • This is caused by mutations in the RAB7A gene on chromosome 3q
  • The transmission is autosomal dominant

Genetics of autosomal recessive axonal CMT2B

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Clinical features

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Differential diagnosis

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Acronyms

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References

  1. Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. JNNP 2009; 80:1304–1314.
  2. Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
  3. Fawcett KA, Murphy SM, Polke JM, et al. Comprehensive analysis of the TRPV4 gene in a large sites of inherited neuropathies and controls. JNNP 2012; 83:1204-1209.
  4. Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
  5. Bouhouche A, Benomar A, Birouk N, et al. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. Am J Hum Genet 1999; 65:722-727.
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