Charcot Marie Tooth disease 2B (CMT2B)

Evidence-based neurology checklist on charcot marie tooth disease 2b (cmt2b): 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 Clinical features…

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

Clinical features

Differential diagnosis

Acronyms

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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