Charcot Marie Tooth disease 1E (CMT1E)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease 1E (CMT1E). This is caused by mutations in the PMP22 gene mutation on chromosome 17p. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the PMP22 gene mutation on chromosome 17p
- It is infantile onset
Clinical features
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Synonym
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Acronym
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References
- Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
- Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
- 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.
- 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.
- 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.
