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    Neurology. 2000 Apr 25;54(8):1696-8.

    Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

    Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, Ciano C, Sghirlanzoni A.

    Departments of Neurology, "C. Besta" National Neurological Institute, Milan, Italy. dpareys@tin.it

    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.

    PMID: 10762521 [PubMed - indexed for MEDLINE]

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