PMID- 10762521
OWN - NLM
STAT- MEDLINE
DCOM- 20000512
LR  - 20220129
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 54
IP  - 8
DP  - 2000 Apr 25
TI  - Cranial nerve involvement in CMT disease type 1 due to early growth response 2 
      gene mutation.
PG  - 1696-8
AB  - 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.
FAU - Pareyson, D
AU  - Pareyson D
AD  - Departments of Neurology, "C. Besta" National Neurological Institute, Milan, 
      Italy. dpareys@tin.it
FAU - Taroni, F
AU  - Taroni F
FAU - Botti, S
AU  - Botti S
FAU - Morbin, M
AU  - Morbin M
FAU - Baratta, S
AU  - Baratta S
FAU - Lauria, G
AU  - Lauria G
FAU - Ciano, C
AU  - Ciano C
FAU - Sghirlanzoni, A
AU  - Sghirlanzoni A
LA  - eng
GR  - 924/TI_/Telethon/Italy
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (EGR2 protein, human)
RN  - 0 (Early Growth Response Protein 2)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Charcot-Marie-Tooth Disease/*complications
MH  - Cranial Nerve Diseases/*genetics
MH  - DNA-Binding Proteins/*genetics
MH  - Early Growth Response Protein 2
MH  - Evoked Potentials, Auditory, Brain Stem
MH  - Female
MH  - Hearing Loss, Sensorineural/etiology
MH  - Heterozygote
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - *Mutation, Missense
MH  - Nerve Fibers, Myelinated/pathology
MH  - Neural Conduction
MH  - Sural Nerve/pathology
MH  - Transcription Factors/*genetics
EDAT- 2000/04/13 09:00
MHDA- 2000/05/20 09:00
CRDT- 2000/04/13 09:00
PHST- 2000/04/13 09:00 [pubmed]
PHST- 2000/05/20 09:00 [medline]
PHST- 2000/04/13 09:00 [entrez]
AID - 10.1212/wnl.54.8.1696 [doi]
PST - ppublish
SO  - Neurology. 2000 Apr 25;54(8):1696-8. doi: 10.1212/wnl.54.8.1696.