PMID- 11239949
OWN - NLM
STAT- MEDLINE
DCOM- 20010607
LR  - 20190724
IS  - 0022-510X (Print)
IS  - 0022-510X (Linking)
VI  - 184
IP  - 2
DP  - 2001 Mar 1
TI  - A novel missense mutation in the early growth response 2 gene associated with 
      late-onset Charcot--Marie--Tooth disease type 1.
PG  - 149-53
AB  - A novel mutation (Arg381Cys) in the second zinc-finger domain of early growth 
      response 2 (EGR2) was identified in a late-onset Charcot--Marie--Tooth disease 
      type 1 (CMT1) patient. This patient had initial symptoms of numbness and weakness 
      in the leg at age 59, and a median nerve motor conduction velocity of 27 m/s. A 
      sural nerve biopsy showed a severe loss of myelinated fibers with numerous onion 
      bulbs. This is the first report of the EGR2 mutation presenting a late onset of 
      CMT1 phenotype. Its mutation was a different amino acid substitution at codon 381 
      (Arg381His) which demonstrated congenital hypomyelinating neuropathy or 
      early-onset CMT1. This report suggests that the EGR2 mutation represents 
      divergent phenotypes at codon 381, which may be a mutation hotspot.
FAU - Yoshihara, T
AU  - Yoshihara T
AD  - Department of Neurology, Nagoya University School of Medicine, Nagoya 466, Japan.
FAU - Kanda, F
AU  - Kanda F
FAU - Yamamoto, M
AU  - Yamamoto M
FAU - Ishihara, H
AU  - Ishihara H
FAU - Misu, K
AU  - Misu K
FAU - Hattori, N
AU  - Hattori N
FAU - Chihara, K
AU  - Chihara K
FAU - Sobue, G
AU  - Sobue G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - J Neurol Sci
JT  - Journal of the neurological sciences
JID - 0375403
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (EGR2 protein, human)
RN  - 0 (Early Growth Response Protein 2)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Aged
MH  - Biopsy
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - DNA-Binding Proteins/*genetics
MH  - Early Growth Response Protein 2
MH  - Humans
MH  - Male
MH  - Mutation, Missense/*genetics
MH  - Phenotype
MH  - Sural Nerve/pathology
MH  - Transcription Factors/*genetics
EDAT- 2001/03/10 10:00
MHDA- 2001/06/19 10:01
CRDT- 2001/03/10 10:00
PHST- 2001/03/10 10:00 [pubmed]
PHST- 2001/06/19 10:01 [medline]
PHST- 2001/03/10 10:00 [entrez]
AID - S0022510X00005049 [pii]
AID - 10.1016/s0022-510x(00)00504-9 [doi]
PST - ppublish
SO  - J Neurol Sci. 2001 Mar 1;184(2):149-53. doi: 10.1016/s0022-510x(00)00504-9.