Charcot Marie Tooth disease 1E (CMT1E)

Evidence-based neurology checklist on charcot marie tooth disease 1e (cmt1e): Genetics This is caused by mutations in the PMP22 gene mutation on chromosome 17p It is infantile onset Clinical features Synonym Acronym

Genetics

  • This is caused by mutations in the PMP22 gene mutation on chromosome 17p
  • It is infantile onset

Clinical features

Synonym

Acronym

References

  1. Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
  2. Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
  3. Sambuughin N, de Bantel A, McWilliams S, Sivakumar K. Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. Neurology 2003; 60:506-508.
  4. Kousseff BG, Hadro TA, Treiber DL, Wollner T, Morris C. Charcot-Marie-Tooth disease with sensorineural hearing loss-an autosomal dominant trait. Birth Defects Orig Artic Ser 1982; 18:223-228. 
  5. Hamiel OP, Raas-Rothschild A, Upadhyaya M, et al. Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant. J Pediatr 1993; 123:431-434.
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