PMID- 9361298
OWN - NLM
STAT- MEDLINE
DCOM- 19971210
LR  - 20231213
IS  - 0969-9961 (Print)
IS  - 0969-9961 (Linking)
VI  - 4
IP  - 3-4
DP  - 1997
TI  - Connexin32 and X-linked Charcot-Marie-Tooth disease.
PG  - 221-30
AB  - Mutations in the gap junction gene connexin32 (Cx32) cause the X-linked form of 
      Charcot-Marie-Tooth disease, an inherited demyelinating neuropathy. More than 130 
      different mutations have been described, affecting all portions of the Cx32 
      protein. In transfected cells, the mutant Cx32 proteins encoded by some Cx32 
      mutations fall to reach the cell surface; other mutant proteins reach the cell 
      surface, but only one of these forms functional gap junctions. In peripheral 
      nerve, Cx32 is localized to incisures and paranodes, regions of noncompact myelin 
      within the myelin sheath. This localization suggests that Cx32 forms "reflexive" 
      gap junctions that allow ions and small molecules to diffuse directly across the 
      myelin sheath, which is a thousandfold shorter distance than the circumferential 
      pathway through the Schwann cell cytoplasm. Cx32 mutations may interrupt this 
      shorter pathway or have other toxic effects, thereby injuring myelinating Schwann 
      cells and their axons.
FAU - Bone, L J
AU  - Bone LJ
AD  - Department of Neurology, University of Pennsylvania School of Medicine, 
      Philadelphia 19104, USA.
FAU - Deschenes, S M
AU  - Deschenes SM
FAU - Balice-Gordon, R J
AU  - Balice-Gordon RJ
FAU - Fischbeck, K H
AU  - Fischbeck KH
FAU - Scherer, S S
AU  - Scherer SS
LA  - eng
GR  - NS08075/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  - Neurobiol Dis
JT  - Neurobiology of disease
JID - 9500169
RN  - 0 (Connexins)
SB  - IM
MH  - Animals
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - Connexins/*genetics
MH  - Genetic Linkage/*genetics
MH  - Humans
MH  - X Chromosome/*genetics
MH  - Gap Junction beta-1 Protein
RF  - 82
EDAT- 1997/01/01 00:00
MHDA- 1997/11/15 00:01
CRDT- 1997/01/01 00:00
PHST- 1997/01/01 00:00 [pubmed]
PHST- 1997/11/15 00:01 [medline]
PHST- 1997/01/01 00:00 [entrez]
AID - S0969-9961(97)90152-2 [pii]
AID - 10.1006/nbdi.1997.0152 [doi]
PST - ppublish
SO  - Neurobiol Dis. 1997;4(3-4):221-30. doi: 10.1006/nbdi.1997.0152.