PMID- 10514227
OWN - NLM
STAT- MEDLINE
DCOM- 19991112
LR  - 20220129
IS  - 0148-639X (Print)
IS  - 0148-639X (Linking)
VI  - 22
IP  - 11
DP  - 1999 Nov
TI  - Charcot-marie-tooth disease and related neuropathies: molecular basis for 
      distinction and diagnosis.
PG  - 1498-509
AB  - Great advances have been made in understanding the molecular basis of 
      Charcot-Marie-Tooth disease (CMT) and related neuropathies, namely 
      Dejerine-Sottas disease (DSD), hereditary neuropathy with liability to pressure 
      palsies (HNPP) and congenital hypomyelination (CH). The number of newly uncovered 
      mutations and identified genetic loci is rapidly increasing, and, as a 
      consequence, the classification of these disorders is becoming more complicated. 
      Molecular genetics, animal models, and transfected cell studies are shedding 
      light on function and dysfunction of proteins involved in hereditary 
      myelinopathies-peripheral myelin protein 22 (PMP22), myelin protein zero (PO), 
      connexin 32 (Cx32), and early growth response 2 (EGR2). Gene dosage effect, loss 
      of function, gain of toxic function, and dominant negative effect are possible 
      mechanisms whereby different gene mutations may exert their detrimental action on 
      peripheral nerves. A tentative rational approach to clinical and molecular 
      diagnosis based on genotype-phenotype correlation analysis is described.
CI  - Copyright 1999 John Wiley & Sons, Inc.
FAU - Pareyson, D
AU  - Pareyson D
AD  - Department of Neurology, Istituto Nazionale Neurologico "C.Besta," Via Celoria 
      11, 20133 Milan, Italy. dpareys@tin.it
LA  - eng
GR  - 924/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Muscle Nerve
JT  - Muscle & nerve
JID - 7803146
SB  - IM
MH  - Animals
MH  - Charcot-Marie-Tooth Disease/*diagnosis/*genetics
MH  - DNA Mutational Analysis
MH  - Diagnosis, Differential
MH  - Hereditary Sensory and Motor Neuropathy/*diagnosis/genetics
MH  - Humans
MH  - Mutation, Missense
MH  - *Point Mutation
RF  - 116
EDAT- 1999/10/08 00:00
MHDA- 1999/10/08 00:01
CRDT- 1999/10/08 00:00
PHST- 1999/10/08 00:00 [pubmed]
PHST- 1999/10/08 00:01 [medline]
PHST- 1999/10/08 00:00 [entrez]
AID - 10.1002/(SICI)1097-4598(199911)22:11<1498::AID-MUS4>3.0.CO;2-9 [pii]
AID - 10.1002/(sici)1097-4598(199911)22:11<1498::aid-mus4>3.0.co;2-9 [doi]
PST - ppublish
SO  - Muscle Nerve. 1999 Nov;22(11):1498-509. doi: 
      10.1002/(sici)1097-4598(199911)22:11<1498::aid-mus4>3.0.co;2-9.