Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation
- 25 April 2000
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 54 (8) , 1696-1698
- https://doi.org/10.1212/wnl.54.8.1696
Abstract
Article abstract Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.Keywords
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