Charcot Marie Tooth disease 2J (CMT2J)

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

Charcot Marie Tooth disease 2J (CMT2J). This is caused by mutations in the MPZ gene on chromosome 1q. Fully referenced neurology checklist.

Genetics

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

Neurological features

Locked: subscribe to see this section.

Autonomic features

Locked: subscribe to see this section.

Pupillary abnormalities

Locked: subscribe to see this section.

Acronym

Locked: subscribe to see this section.

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.

Related checklists

Loading...