Journal
NEUROLOGY
Volume 54, Issue 8, Pages 1696-1698Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.54.8.1696
Keywords
Charcot-Marie-Tooth disease; EGR2; cranial nerves; myelin genes; demyelinating neuropathy
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Funding
- Telethon [924] Funding Source: Medline
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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.
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