PMID- 9888385
OWN - NLM
STAT- MEDLINE
DCOM- 19990311
LR  - 20231213
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 1
DP  - 1999
TI  - Mutations in the peripheral myelin genes and associated genes in inherited 
      peripheral neuropathies.
PG  - 11-28
AB  - The peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ, 
      P0), and the connexin 32 gene (Cx32, GJB1) code for membrane proteins expressed 
      in Schwann cells of the peripheral nervous system (PNS). The early growth 
      response 2 gene (EGR2) encodes a transcription factor that may control 
      myelination in the PNS. Mutations in the respective genes, located on human 
      chromosomes 17p11.2, 1q22-q23, Xq13.1, and 10q21.1-q22.1, are associated with 
      several inherited peripheral neuropathies. To date, a genetic defect in one of 
      these genes has been identified in over 1,000 unrelated patients manifesting a 
      wide range of phenotypes, i.e., Charcot-Marie-Tooth disease type 1 (CMT1) and 
      type 2 (CMT2), Dejerine-Sottas syndrome (DSS), hereditary neuropathy with 
      liability to pressure palsies (HNPP), and congenital hypomyelination (CH). This 
      large number of genetically defined patients provides an exceptional opportunity 
      to examine the correlation between phenotype and genotype.
FAU - Nelis, E
AU  - Nelis E
AD  - Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge 
      Foundation, University of Antwerp, Department of Biochemistry, Belgium.
FAU - Haites, N
AU  - Haites N
FAU - Van Broeckhoven, C
AU  - Van Broeckhoven C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Connexins)
RN  - 0 (Immediate-Early Proteins)
RN  - 0 (Myelin P0 Protein)
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - Charcot-Marie-Tooth Disease/genetics
MH  - Connexins/genetics
MH  - Genotype
MH  - Hereditary Sensory and Motor Neuropathy/*genetics
MH  - Humans
MH  - Immediate-Early Proteins/genetics
MH  - Myelin P0 Protein/genetics
MH  - Myelin Proteins/*genetics
MH  - Phenotype
MH  - Gap Junction beta-1 Protein
RF  - 135
EDAT- 1999/01/15 03:01
MHDA- 2000/06/22 10:00
CRDT- 1999/01/15 03:01
PHST- 1999/01/15 03:01 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/01/15 03:01 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(1):11-28. doi: 
      10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A.