Charcot Marie Tooth disease 2J (CMT2J)

Evidence-based neurology checklist on charcot marie tooth disease 2j (cmt2j): Genetics This is caused by mutations in the MPZ gene on chromosome 1q It is late onset Neurological features Autonomic features Pupillary abnormalities Acronym

Genetics

  • This is caused by mutations in the MPZ gene on chromosome 1q
  • It is late onset

Neurological features

Autonomic features

Pupillary abnormalities

Acronym

References

  1. Seeman P, Mazanec R, Huehne K, Suslíková P, Keller O, Rautenstrauss B. Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation. Neurology 2004; 63:733-735.
  2. Baloh RH, Jen JC, Kim G, Baloh RW. Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene). Neurology 2004; 62:1905-1906.
  3. Triggs WJ, Brown RH Jr, Menkes DL. Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. N Engl J Med 2006; 354:2584-2592. 
  4. Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. JNNP 1999; 66:779-782.
  5. Kabzińska D, Korwin-Piotrowska T, Drechsler H, Drac H, Hausmanowa-Petrusewicz I, Kochański A. Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene. Am J Med Genet A 2007; 143A:2196-2199.

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