Charcot Marie Tooth disease 2C (CMT2C)

Evidence-based neurology checklist on charcot marie tooth disease 2c (cmt2c): Genetics This is caused by mutations in the TRPV4 gene on chromosome 12q The onset is in the second to fifth decades Clinical features Acronym

Genetics

  • This is caused by mutations in the TRPV4 gene on chromosome 12q
  • The onset is in the second to fifth decades

Clinical features

Acronym

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. Liang JJ, Grogan M, Ackerman MJ. LMNA-mediated arrhythmogenic right ventricular cardiomyopathy and Charcot-Marie-Tooth type 2B1: a patient-discovered unifying diagnosis. J Cardiovasc Electrophysiol 2016; 27:868-871.

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