PMID- 8215977
OWN - NLM
STAT- MEDLINE
DCOM- 19931124
LR  - 20190717
IS  - 0003-9942 (Print)
IS  - 0003-9942 (Linking)
VI  - 50
IP  - 11
DP  - 1993 Nov
TI  - Charcot-Marie-Tooth syndrome.
PG  - 1180-4
AB  - Charcot-Marie-Tooth syndrome (CMT) is a group of genetically determined symmetric 
      distal polyneuropathies. The CMT loci are known to map to chromosome 1 (CMT1B), 
      chromosome 17 (CMT1A), the X chromosome (CMTX), and two additional unknown 
      autosomes (CMT1C and CMT2). The most prevalent form is CMT1A, an autosomal 
      dominant demyelinative disorder caused either by a tandem duplication in band 
      p11.2-12 of chromosome 17 (17p11.2-12) with trisomic expression of the peripheral 
      myelin protein-22 (PMP-22) gene or, less frequently, by a missense mutation of 
      PMP-22. Missense mutations in PMP-22 are also responsible for two forms of 
      demyelinative polyneuropathy in mice, trembler and trembler. Hereditary 
      neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant 
      disorder characterized by recurrent focal neuropathy. In all families thus far 
      studied, patients with HNPP have been found to be monosomic for a segment of 
      chromosome 17p11.2-12. The duplication in CMT1A and deletion in HNPP map to the 
      same region in 17p11.2-12 and are both likely to be consequences of unequal 
      crossing over during germ cell meiosis.
FAU - Chance, P F
AU  - Chance PF
AD  - Department of Pediatrics, University of Utah Medical Center, Salt Lake City.
FAU - Pleasure, D
AU  - Pleasure D
LA  - eng
GR  - NS08075/NS/NINDS NIH HHS/United States
GR  - NS25044/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - United States
TA  - Arch Neurol
JT  - Archives of neurology
JID - 0372436
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - 0 (Pmp22 protein, mouse)
SB  - IM
MH  - Animals
MH  - Charcot-Marie-Tooth Disease/*genetics/physiopathology
MH  - Chromosome Banding
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 17
MH  - Crossing Over, Genetic
MH  - Gene Deletion
MH  - Genetic Linkage
MH  - Humans
MH  - Meiosis
MH  - Mice
MH  - Mutation
MH  - Myelin Proteins/genetics
MH  - Peripheral Nervous System Diseases/genetics
MH  - Repetitive Sequences, Nucleic Acid
MH  - X Chromosome
RF  - 54
EDAT- 1993/11/01 00:00
MHDA- 1993/11/01 00:01
CRDT- 1993/11/01 00:00
PHST- 1993/11/01 00:00 [pubmed]
PHST- 1993/11/01 00:01 [medline]
PHST- 1993/11/01 00:00 [entrez]
AID - 10.1001/archneur.1993.00540110060006 [doi]
PST - ppublish
SO  - Arch Neurol. 1993 Nov;50(11):1180-4. doi: 10.1001/archneur.1993.00540110060006.