PMID- 22734907
OWN - NLM
STAT- MEDLINE
DCOM- 20121029
LR  - 20120627
IS  - 1529-8027 (Electronic)
IS  - 1085-9489 (Linking)
VI  - 17
IP  - 2
DP  - 2012 Jun
TI  - A novel EGR2 mutation within a family with a mild demyelinating form of 
      Charcot-Marie-Tooth disease.
PG  - 206-9
LID - 10.1111/j.1529-8027.2012.00403.x [doi]
AB  - Mutations of the early growth response 2 (EGR2) gene have been reported in a 
      variety of severe demyelinating neuropathies such as autosomal recessive 
      congenital hypomyelinating neuropathy, autosomal dominant child-onset 
      Dejerine-Sottas neuropathy, and autosomal dominant adult-onset 
      Charcot-Marie-Tooth disease (CMT). Here, we report on a heterozygous mutation in 
      EGR2 (c.1160C>A), which results in threonine at position 387 being changed to 
      asparagine, in a family with a mild demyelinating form of adult-onset CMT. Of 
      note, both the proband and her asymptomatic son exhibited neither pes cavus nor 
      champagne-bottle leg atrophy, suggesting that the heterozygous T387N mutation may 
      result in a relatively mild phenotype of demyelinating CMT.
CI  - (c) 2012 Peripheral Nerve Society.
FAU - Shiga, Kensuke
AU  - Shiga K
AD  - Department of Neurology, Kyoto Prefectural University of Medicine, Graduate 
      School of Medicine, Kyoto, Japan. kenshiga@koto.kpu-m.ac.jp
FAU - Noto, Yuichi
AU  - Noto Y
FAU - Mizuta, Ikuko
AU  - Mizuta I
FAU - Hashiguchi, Akihiro
AU  - Hashiguchi A
FAU - Takashima, Hiroshi
AU  - Takashima H
FAU - Nakagawa, Masanori
AU  - Nakagawa M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Peripher Nerv Syst
JT  - Journal of the peripheral nervous system : JPNS
JID - 9704532
RN  - 0 (EGR2 protein, human)
RN  - 0 (Early Growth Response Protein 2)
SB  - IM
MH  - Adolescent
MH  - Charcot-Marie-Tooth Disease/*genetics/*physiopathology
MH  - Early Growth Response Protein 2/*genetics
MH  - Electrophysiological Phenomena
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Phenotype
MH  - *Point Mutation
MH  - Young Adult
EDAT- 2012/06/28 06:00
MHDA- 2012/10/30 06:00
CRDT- 2012/06/28 06:00
PHST- 2012/06/28 06:00 [entrez]
PHST- 2012/06/28 06:00 [pubmed]
PHST- 2012/10/30 06:00 [medline]
AID - 10.1111/j.1529-8027.2012.00403.x [doi]
PST - ppublish
SO  - J Peripher Nerv Syst. 2012 Jun;17(2):206-9. doi: 
      10.1111/j.1529-8027.2012.00403.x.