PMID- 16198564
OWN - NLM
STAT- MEDLINE
DCOM- 20060207
LR  - 20161124
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 15
IP  - 11
DP  - 2005 Nov
TI  - Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive 
      scoliosis.
PG  - 764-7
AB  - Mutations in the early growth response 2 gene (EGR2) cause demyelinating 
      neuropathies differing in severity and age of onset. We tested 46 unrelated Czech 
      patients with dominant or sporadic demyelinating CMT neuropathy for mutations in 
      the EGR2 gene. One novel de-novo mutation (Arg359Gln, R359Q) was identified in 
      heterozygous state in a patient with a typical CMT1 phenotype, progressive 
      moderate thoracolumbar scoliosis and without clinical signs of cranial nerve 
      dysfunction. This patient is presently less affected compared to previously 
      described Dejerine-Sottas neuropathy (DSN) patients carrying another substitution 
      at codon 359 (Arg359Trp, R359W). This report shows that EGR2 mutations are rare 
      in Czech patients with demyelinating type of CMT and suggests that different 
      substitutions at codon 359 of EGR2 can cause significantly different phenotypes.
FAU - Mikesova, E
AU  - Mikesova E
AD  - Department of Child Neurology, 2nd School of Medicine, Charles University Prague, 
      V Uvalu 84, 15006 Prague, Czech Republic. mikesova@yahoo.com
FAU - Huhne, K
AU  - Huhne K
FAU - Rautenstrauss, B
AU  - Rautenstrauss B
FAU - Mazanec, R
AU  - Mazanec R
FAU - Barankova, L
AU  - Barankova L
FAU - Vyhnalek, M
AU  - Vyhnalek M
FAU - Horacek, O
AU  - Horacek O
FAU - Seeman, P
AU  - Seeman P
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20050929
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (ERG protein, human)
RN  - 0 (Trans-Activators)
RN  - 0 (Transcriptional Regulator ERG)
RN  - 0RH81L854J (Glutamine)
RN  - 94ZLA3W45F (Arginine)
SB  - IM
MH  - Adolescent
MH  - Arginine/*genetics
MH  - Charcot-Marie-Tooth Disease/complications/*genetics/physiopathology/radiotherapy
MH  - DNA Mutational Analysis/methods
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Glutamine/*genetics
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Neural Conduction/physiology
MH  - Neurologic Examination
MH  - Peripheral Nerves/physiopathology
MH  - Radiography
MH  - Scoliosis/complications/diagnostic imaging/*genetics/physiopathology
MH  - Trans-Activators/*genetics
MH  - Transcriptional Regulator ERG
EDAT- 2005/10/04 09:00
MHDA- 2006/02/08 09:00
CRDT- 2005/10/04 09:00
PHST- 2005/04/08 00:00 [received]
PHST- 2005/07/25 00:00 [revised]
PHST- 2005/08/04 00:00 [accepted]
PHST- 2005/10/04 09:00 [pubmed]
PHST- 2006/02/08 09:00 [medline]
PHST- 2005/10/04 09:00 [entrez]
AID - S0960-8966(05)00249-X [pii]
AID - 10.1016/j.nmd.2005.08.001 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 2005 Nov;15(11):764-7. doi: 10.1016/j.nmd.2005.08.001. Epub 
      2005 Sep 29.