Charcot Marie Tooth disease 3 (CMT3)
Evidence-based neurology checklist on charcot marie tooth disease 3 (cmt3): Genetic mutations: autosomal dominant or recessive Peripheral myelin protein (PMP22) on chromosome 17p Myelin protein zero (MPZ) on chromosome 1q Early growth response 2 (EGR2) on chromosome 10q Periaxin (PRX) on…
Genetic mutations: autosomal dominant or recessive
- Peripheral myelin protein (PMP22) on chromosome 17p
- Myelin protein zero (MPZ) on chromosome 1q
- Early growth response 2 (EGR2) on chromosome 10q
- Periaxin (PRX) on chromosome 19q
- Gap junction beta 1 (GJB1) on chromosome X
- Chromosome 8
Clinical features
Investigations
Synonym
References
- Andermann F, Lloyd-Smith Dl, Mavor H, Mathieson G. Observations on hypertrophic neuropathy of Dejerine and Sottas. Neurology 1962; 12:712-724.
- Harding AE, Thomas PK. Peroneal muscular atrophy with pyramidal features. JNNP 1984; 47:168-172.
- Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993; 5:269-273.
- Rautenstrauss B, Huehne K. Novel human pathological mutations. Gene symbol: MPZ. Disease: Dejerine-Sottas syndrome. Hum Genet 2007; 122:558.
- Gargaun E, Seferian AM, Cardas R, et al. EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome. J Neurol 2016; 263:1456-1458.
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